Tag Archives: Neurological Disorders

Brain attack (Stroke)

 

An elderly person’s worst nightmare is suffering a stroke. It conjures up visions of being confined to bed with the inability to move or speak and, worst of all, loss of bowel and bladder control. A cerebral stroke occurs when blood supply to a part of the brain stops for any reason. Though strokes can occur at any age, they are more common after 65 years. With the increase in life expectancy in India, the incidence of stroke has doubled from 175 to 350 per 1,00,000.

CLICK & SEE THE PICTURES
Although it is uncommon for strokes to occur in young people, it can happen in youngsters born with a malformed blood vessel in the brain, brain tumours or those who suffer severe dehydration. Also, at any age, irregular heartbeats can lead to small clots in the brain called emboli, which can block vessels. The chances of having a stroke increase in those above 65 years if they have diabetes, hypertension, obesity, elevated blood lipids (cholesterol and triglycerides), are smokers, take more than 60ml of alcohol a day and do not have an active life.

Pregnant women can also suffer a stroke because of an increase in clotting tendency . In fact, the number of such women having a stroke has increased internationally. This upsurge has been blamed on older age at first pregnancy, an inactive life prior to and during pregnancy and obesity.

The manifestations of a stroke are giddiness, weakness or paralysis of muscle groups, blurring of vision, inability to speak or loss of consciousness. This is followed by paralysis of a limb, or a side of the body. A stroke occurs when blood supply to an area of the brain is cut off, either as a result of a block or a bleed.
CLICK & SEE
Usually, there are a few warning TIA (transient ischaemic attacks) before a stroke or cerebral attack. There can be sudden blurring of vision, inability to speak or weakness of a limb. These signs are due to spasm of a diseased vessel in the brain or to small amounts of blood leaking. Many people do not take these symptoms seriously since recovery is spontaneous and complete. But appropriate preventive treatment at this point can prevent a full-blown stroke.

In the absence of treatment, TIAs are soon followed by the real thing — a stroke. The devastation caused by it depends on the extent of damage to the brain. This in turn depends on the site and size of the block or leak. Thirty three percent of stroke victims recover, 33 per cent have permanent disability and another 33 per cent die. Cerebral stroke is responsible for 1.2 per cent of the recorded deaths in India.

The most common effect is paralysis of a part of the face or one side of the body. Muscles in the throat and mouth lose co-ordination, making it difficult for the person to swallow and talk. Speech may become slurred and distorted. If the speech centre in the brain is affected the person may understand everything that is said but be unable to reply. Memory loss may make recollection of present events a blur. Quite often though past memories are intact. A person may also lose the ability to make judgements, reason and understand concepts. This makes them appear unnecessarily stubborn. A strange numbness or pricking sensations may occur in the paralysed limb. Since all these effects are because of damage to the brain, they are difficult to treat with medication.

All injuries heal given time and treatment, the brain is no exception. It is capable of rewiring itself so that lost skills are regained to an extent. A person who is predominantly right handed can learn to write with his left hand. Physiotherapy makes the paralysed muscles flexible and stronger. Since a few muscle spindles may be still active, they can be retrained to enlarge and take over the function of the paralysed muscles. The bladder can be trained to empty itself every 3-4 hours. By speaking slowly and using simple sentences, it is often possible to be understood. The brain can be stimulated with puzzles and poetry to enable faster healing.

Better still, try to prevent a stroke. :-

• Keep diabetes and hypertension in control.

• Take medications to reduce lipid levels.

• Take aspirin and clopidogrel, usually prescribed to diabetics and those with high pressure, regularly to prevent a stroke.

Walk, swim or cycle for at least 30 minutes a day.

• Stimulate yourself intellectually by learning new skills and doing puzzles.

When it comes to brain circuits, the correct mantra is “use it or lose it!”

Source : The Telegraph ( Kolkata, India)

Enhanced by Zemanta
Advertisements

Torticollis

 

Alternative Names : Wry neck; Loxia

DEFINITION:
Torticollis is a twisted neck in which the head is tipped to one side, while the chin is turned to the other.It is a stiff neck associated with muscle spasm, classically causing lateral flexion contracture of the cervical spine musculature. The muscles affected are principally those supplied by the spinal accessory nerve.

CLICK  &  SEE THE PICTURES

Symptoms:
•Limited range of motion of the head
•Headache
•Head tremor
•Neck pain
•Shoulder is higher on one side of the body
•Stiffness of neck muscles
•Swelling of the neck muscles (possibly present at birth)

Types of Torticollis:

Temporary Torticollis: This type of wry neck usually disappears after one or two days. It can be caused by:

*swollen lymph nodes
*an ear infection
*a cold
*an injury to the head and neck that causes swelling

Fixed Torticollis:  Fixed torticollis is also called acute torticollis or permanent torticollis. It is usually due to a problem with muscle or bone structure.

Muscular Torticollis:
This is the most common type of fixed torticollis. It is caused by scarring or tight muscles on one side of the neck

Klippel-Feil Syndrome:
This is a congenital form of wry neck. It occurs when the bones in an infant’s neck have formed incorrectly. Children born with this condition may have difficulty with hearing and vision.

Cervical Dystonia:
This rare disorder is sometimes referred to as spasmodic torticollis. It causes neck muscles to contract in spasms. If you have cervical dystonia, your head twists or turns painfully to one side. It may also tilt forward or backward. Cervical dystonia sometimes goes away without treatment. However, there is a risk of recurrence.

This type of wry neck  or Torticollis can happen to anyone. However, it is most commonly diagnosed in middle age. It affects more women than men.

CAUSES:
Torticollis  can be inherited. It can also develop in the womb. This may happen if the fetus’ head is in the wrong position. It can also be caused by damage to the muscles or blood supply to the neck.

Anyone can develop wry neck after a muscle or nervous system injury. However, most of the time, the cause of wry neck is not known. This is called idiopathic torticollis.

DIAGNOSIS:
Evaluation of a child with torticollis begins with history taking to determine circumstances surrounding birth and any possibility of trauma or associated symptoms. Physical examination reveals decreased rotation and bending to the side opposite from the affected muscle. Some say that congenital cases more often involve the right side, but there is not complete agreement about this in published studies. Evaluation should include a thorough neurologic examination, and the possibility of associated conditions such as developmental dysplasia of the hip and clubfoot should be examined. Radiographs of the cervical spine should be obtained to rule out obvious bony abnormality, and MRI should be considered if there is concern about structural problems or other conditions.

Evaluation by an ophthalmologist should be considered in children to ensure that the torticollis is not caused by vision problems (IV cranial nerve palsy, nystagmus-associated “null position,” etc.). Most cases in infants respond well to physical therapy. Other causes should be treated as noted above.

TREATMENT:
Common treatments  might involve a multi-phase process:

1.Low-impact exercise to increase strong form neck stability
2.Manipulation of the neck by a chiropractor, physical therapist, or D.O.†
3.Extended heat application.
4.Repetitive shiatsu massage.

†An Osteopathic Physician (D.O.) may choose to use Cranial techniques to properly position the occipital condyles – thereby relieving compression of cranial nerve XI in children with Torticollis. This is an example of Osteopathic Manipulative Treatment.

Acquired torticollis:
Acquired torticollis occurs because of another problem and usually presents in previously normal children and adults…..

*A self-limiting spontaneously occurring form of torticollis with one or more painful neck muscles is by far the most common (‘stiff neck’) and will pass spontaneously in 1–4 weeks. Usually the sternocleidomastoid muscle or the trapezius muscle is involved. Sometimes draughts, colds or unusual postures are implicated; however in many cases no clear cause is found. These episodes are rarely seen by doctors other than a family physician.

*Trauma to the neck can cause atlantoaxial rotatory subluxation, in which the two vertebrae closest to the skull slide with respect to each other, tearing stabilizing ligaments; this condition is treated with traction to reduce the subluxation, followed by bracing or casting until the ligamentous injury heals.

*Tumors of the skull base (posterior fossa tumors) can compress the nerve supply to the neck and cause torticollis, and these problems must be treated surgically.

*Infections in the posterior pharynx can irritate the nerves supplying the neck muscles and cause torticollis, and these infections may be treated with antibiotics if they are not too severe, but could require surgical debridement in intractable cases.

*Ear infections and surgical removal of the adenoids can cause an entity known as Grisel’s syndrome, a subluxation of the upper cervical joints, mostly the atlantoaxial joint, due to inflammatory laxity of the ligaments caused by an infection. This bridge must either be broken through manipulation of the neck, or surgically resected.

*The use of certain drugs, such as antipsychotics, can cause torticollis.

*Antiemetics – Neuroleptic Class – Phenothiazines

There are many other rare causes of torticollis.

Spasmodic torticollis:
Torticollis with recurrent but transient contraction of the muscles of the neck and esp. of the sternocleidomastoid. “intermittent torticollis . “cervical dystonia”

TREATMENT: Botulinum toxin has been used to inhibit the spastic contractions of the affected muscles.

In animals:.CLICK & SEE
The condition can also occur in animals, usually as a result of an inner ear infection but sometimes as a result of an injury. It is seen largely in domestic rodents and rabbits, but may also appear in dogs and other different animals.

Possible ComplicationsComplications may include:

•Muscle swelling due to constant tension
•Neurological symptoms due to compressed nerve roots

Prognosis:
The condition may be easier to correct in infants and children. If the condition becomes chronic, numbness and tingling may develop as nerve roots become compressed in the neck.

The muscle itself may become large (hypertrophic) due to constant stimulation and exercise.

Botulinum toxin injections often provide substantial relief.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://en.wikipedia.org/wiki/Torticollis
http://www.nlm.nih.gov/medlineplus/ency/article/000749.htm
http://www.umm.edu/imagepages/19090.htm

http://commons.wikimedia.org/wiki/File:Sternocleidomastoideus.png

http://www.healthline.com/health/torticollis#Causes2

Enhanced by Zemanta

Some Health Quaries & Answers

‘My child is too thin’ :

Q: My daughter is two years old and very thin. She is picky about her food and I feel she does not eat enough. Her weight is only 9kg. Is it a good idea to give her appetite stimulating tonics?


A: Normally, a child weighs triple its birth weight at the end of the first year and adds 2kg the next year. So your daughter may be in the normal range. It is better to try to discover why she does not eat and treat the cause rather than use tonics. Appetite stimulants can have severe side effects. Some of them contain large amounts of iodine, steroids or cyproheptadine (a banned chemical). They are best avoided.

What you can do is reduce her milk intake to 400ml a day. Give half after breakfast and the rest at tea time. Figure out what she likes to eat.

Also, get her dewormed; your paediatrician will tell you how. And remember, some children are just difficult when it comes to food.

Digital spasms :

Q: I get sudden painful spasms in my fingers and toes, especially at night. I am 34 years old.

A: Calcium deficiency can cause this. If you are not on calcium supplements, starting them may help. Consult a physician to help with the diagnosis and dosage of calcium.

Pressure pills :

Q: Is there a natural way to reduce blood pressure? Currently I am on a lot of medication for it.

A: You can reduce your dependence on tablets by achieving ideal body weight (height in metre squared multiplied by 23), walking an hour a day, reducing salt intake to 2.5gm a day, avoiding salted snacks, sleeping at regular hours and reducing stress with yoga and meditation.

Fit and fine :

Q: My son is one and a half years old and has had fits twice. The doctor says it is “fever fits”. I am worried that he may become epileptic. What is a fever fit?

A: A febrile seizure (fever fit) usually occurs in children under the age of 5 during an episode of fever. Only one third of the affected children have a second seizure. A certain percentage of children will develop epilepsy but the incidence is not greater in those who have had febrile seizures. Also, these children do not develop mental retardation nor is their intelligence affected. But a febrile fit can be frightening to watch. To prevent such seizures, fever has to be tackled immediately. Buy a digital thermometer and check the temperature by placing it in the child’s armpit (remember, your hand is not a thermometer). If the temperature is greater than 100°F, give the child 10mg/kg of paracetemol. Remove the child’s clothes and sponge him down with tap water. Turn the fan on full speed. After four hours check the temperature again. If it has risen, repeat the above process. Contact your doctor.

Feet first

Q: I have cracked feet. Not only does it look ugly, when water enters the cracks they become painful and inflamed.

 

A: You could try soaking your feet in hot water to which rock salt and liquid soap have been added. After 10 minutes, scrub the foot gently with a small plastic brush. Then apply baby oil. After a few weeks, you will see a vast improvement.

Source : The Telegraph ( kolkata, India)

Neurofibromatosis

Definition:
Neurofibromatosis (commonly abbreviated NF; neurofibromatosis type 1 is also known as von Recklinghausen disease) is a genetically-inherited disorder in which the nerve tissue grows tumors (i.e., neurofibromas) that may be benign or may cause serious damage by compressing nerves and other tissues. The disorder affects all neural crest cells (Schwann cells, melanocytes and endoneurial fibroblasts). Cellular elements from these cell types proliferate excessively throughout the body, forming tumors; melanocytes also function abnormally in this disease, resulting in disordered skin pigmentation and “cafe-au-lait” spots. The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems.
CLICK TO SEE

CLICK TO SEE THE PICTURES
Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop. Therefore, if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The severity in affected individuals can vary, this may be due to variable expressivity. Approximately half of cases are due to de novo mutations and no other affected family members are seen. It affects males and females equally.

Symptoms:
Three distinct types of neurofibromatosis exist, each with different signs and symptoms.
Neurofibromatosis type 1 (also known as “von Recklinghausen disease”) is the most common form of NF, accounting for up to 90% of the cases. NF 1 has a disorder frequency of 1 in 4,000, making it more common than neurofibromatosis type 2, with a frequency of 1 in 45,000 people. It occurs following the mutation of neurofibromin on chromosome 17q11.2. 100,000 Americans have neurofibromatosis. Neurofibromin is a tumor suppressor gene whose function is to inhibit the p21 ras oncoprotein. In absence of this tumor suppressor’s inhibitory control on the ras oncoprotein, cellular proliferation is erratic and uncontrolled, resulting in unbalanced cellular proliferation and tumor development. The diagnosis of NF1 is made if any two of the following seven criteria are met:

CLICK TO SEE..>..  (1).…...(2)..……...(3)

Plexiform neurofibroma on the neck of a patient; plexiform neurofibromas are a cause of morbidity in the affected individuals.

 

CLICK TO SEE
Patient with multiple small cutaneous neurofibromas and a ‘café au lait spot’ (bottom of photo, to the right of centre). A biopsy has been taken of one of the lesions.

*Two or more neurofibromas on or under the skin, or one plexiform neurofibroma (a large cluster of tumors involving multiple nerves); neurofibromas are the subcutaneous bumps characteristic of the disease, and increase in number with age.

*Freckling of the groin or the axilla (arm pit).

 

*Café au lait spots (pigmented, light brown macules located on nerves, with smooth edged, “coast of California” birthmarks).
*Six or more measuring 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals.

*Skeletal abnormalities, such as sphenoid dysplasia or thinning of the cortex of the long bones of the body (i.e. bones of the leg, potentially resulting in bowing of the legs)

*Lisch nodules (hamartomas of iris), freckling in the iris

*Tumors on the optic nerve, also known as an optic glioma

*Macrocephaly in 30-50% of the pediatric population without any hydrocephalus

*Epilepsy (seizures)

*Juvenile posterior lenticular opacity

NF 1 also increases the risk of tumor development, particularly, meningiomas, gliomas and pheochromocytomas.

Neurofibromatosis type 2 (NF 2):……..CLICK & SEE
Neurofibromatosis type 2 (also called “central neurofibromatosis” is the result of mutation of the merlin (also known as “schwannomin”[1]) in chromosome 22q12. It accounts for only 10% of all cases of NF, and its frequency is lower than NF1. It is also caused by a mutation in a tumor suppressor gene NF2 (whose gene product is schwannomin or merlin). The normal function of merlin is not well understood.  The disorder manifests in the following fashion:

 

*bilateral acoustic neuromas (tumors of the vestibulocochlear nerve or cranial nerve 8 (CN VIII) also known as schwannoma), often leading to hearing loss. In fact, the hallmark of NF 2 is hearing loss due to acoustic neuromas around the age of twenty.

*The tumors may cause:
…#headaches
…#balance problems, and peripheral vertigo often due to schwannoma and involvement of the inner ear
…#facial weakness/paralysis due to involvement or compression of the facial nerve (cranial nerve 7 or CN VII)
…#patients with NF2 may also develop other brain tumors, as well as spinal tumors.
…#deafness and tinnitus

NF 2 increases the risk of meningiomas and ependymomas

Schwannomatosis:
1.Multiple schwannomas occur.
2.The schwannomas develop on cranial, spinal and peripheral nerves.
3.Chronic pain, and sometimes numbness, tingling and weakness
4.About 1/3 of patients have segmental schwannomatosis, which means the schwannomas are limited to a single part of the body, such as an arm, a leg or the spine.
5.Unlike the other forms of NF, the schwannomas do not develop on vestibular nerves, and as a result, no loss of hearing is associated with schwannomatosis.
6.Patients with schwannomatosis do not have learning disabilities related to the disorder.

One must keep in mind, however, that neurofibromatosis can occur in or affect any of the organ systems, whether that entails simply compressing them (from tumor growth) or in fact altering the organs in some fundamental way. This disparity in the disorder is one of many factors that makes it difficult to diagnose, and eventually find a prognosis for.

Patients with neurofibromatosis can be affected in many different ways. Morbidity is often a result of plexiform neuromas, optic gliomas, or acoustic neuromas, but mortality can also be associated with malignant transformation of the neuromas, such as neurofibrosarcomas (often there is a malignant transformation in less than 3% of the cases of NF1). There is a high incidence of learning disabilities or cognitive deficit  in patients with NF, particularly NF-1, however severe retardation is not part of the syndrome. Because of the tumor generating nature of the disorder and its involvement of the nervous system and also because of early onset macrocephaly in the pediatric population, there is often an increased chance of development of epilepsy in those affected. Neurofibromatosis also increases the risk of leukemia particularly in children; Children with NF-1 have 200 to 500 times the normal risk of developing leukemia compared to the general population. Since the tumors grow where there are nerves, they can also grow in areas that are visible, causing considerable social suffering for those affected. The tumors can also grow in places that can cause other medical issues that may require them to be removed for the patient’s safety. Affected individuals may need multiple surgeries (such as reduction surgery, or Gamma knife surgery), depending on where the tumors are located. For instance, those affected with NF 2 might benefit from a surgical decompression of the vestibular tumors to prevent deafness

Causes:
What causes neurofibromatosis has yet to be fully explained, but it appears to be mostly due to genetic defects (mutations) that either are passed on by a parent or occur spontaneously at conception. Each form of neurofibromatosis is caused by mutations in different genes.

Neurofibromatosis 1 (NF1)
The NF1 gene is located on chromosome 17. Normally, this gene produces a protein called neurofibromin, which is abundant in nervous system tissue and helps regulate cell growth. A mutation of the NF1 gene causes a loss of neurofibromin, which allows cells to grow uncontrolled. This results in the tumors characteristic of NF1.

Neurofibromatosis 2 (NF2)
A similar problem occurs with NF2. The NF2 gene is located on chromosome 22, which produces a protein called merlin. A mutation of the NF2 gene causes loss of merlin, which also leads to uncontrolled cell growth.

Schwannomatosis
Because schwannomatosis has only recently been identified as a separate type of neurofibromatosis, its exact cause is still under scrutiny. In a small number of familial cases, it’s been associated with a mutation of the SMARCB1/INI1 gene, but in most cases the cause is unknown. The occurrence of schwannomatosis is more spontaneous (sporadic) than inherited.

Risk Factors:
The biggest risk factor for neurofibromatosis is a family history of the disorder. About half of NF1 and NF2 cases are inherited. The remaining cases result from spontaneous mutations that occur at conception.

NF1 and NF2 are both autosomal dominant disorders, which means that any child of a parent with the disorder has a 50 percent chance of inheriting the genetic mutation.

The inheritance pattern for schwannomatosis is less clear. Researchers currently estimate that the risk of inheriting schwannomatosis from an affected parent is around 15 percent.
Complications:
Complications of neurofibromatosis vary, even within the same family. Generally, complications result from tumor growth distorting nerve tissue or pressing on internal organs.

It’s not possible to predict how the disease will progress in any one individual but most people with neurofibromatosis experience a mild or moderate form of the disorder, regardless of type. Usually, serious complications develop prior to adolescence.

Neurofibromatosis 1 (NF1)
Common complications of NF1 include:

*Neurological problems. Learning difficulties occur in up to 60 percent of NF1 cases and are the most common neurological problem associated with NF1. Uncommon neurological complications associated with NF1 include epilepsy, stroke and buildup of excess fluid in the brain (hydrocephalus).

*Concerns with appearance. Visible signs of neurofibromatosis — such as extensive cafe au lait spots, nerve tumors (neurofibromas) in the facial area or large neurofibromas — can cause anxiety and emotional distress, even if not medically serious.

*Skeletal problems. Some children have abnormally formed bones, which can result in curvature of the spine (scoliosis) and bowed legs. NF1 is also associated with decreased bone mineral density, which increases your risk of weak bones (osteoporosis).

*Visual difficulties. Occasionally in children, a tumor growing on the nerve leading from the eye to the brain (optic nerve) can cause visual problems.

* Increase in neurofibromas. Hormonal changes associated with puberty, pregnancy or menopause may cause an increase in neurofibromas. Most women with NF1 have healthy pregnancies but will likely need to be monitored by an obstetrician familiar with NF1, in addition to her NF1 specialist.

*Cardiovascular problems. People with NF1 have an increased risk of high blood pressure and, rarely, blood vessel abnormalities.

*Cancer. Less than 10 percent of people with NF1 develop cancerous (malignant) tumors. These usually arise from neurofibromas under the skin or plexiform neurofibromas involving multiple nerves. Monitor neurofibromas vigilantly for any change in appearance, size or number. Changes may indicate cancerous growth. The earlier a malignancy is detected, the better the chances for effective treatment. People with NF1 also have a higher risk of other forms of cancer, such as breast cancer, leukemia, brain tumors and some types of soft tissue cancer.

Neurofibromatosis 2 (NF2)
Expanding tumors in people with NF2 may cause:

*Partial or total deafness

*Facial nerve damage

*Visual difficulties

*Weakness or numbness in the extremities

*Multiple benign brain tumors (meningiomas) requiring frequent surgeries

Schwannomatosis complications
The pain caused by schwannomatosis can be debilitating and may require surgical treatment or management by a pain specialist.
Diagnosis:
Prenatal testing

Embryo:
For embryos produced via in vitro fertilisation, it is possible via preimplantation genetic diagnosis (PGD) to screen for NF-1.

“PGD has about 95-98% accuracy but requires that the partner with NF2 have a recognizeable genetic mutation, which is only the case for about 60% of people with a clinical diagnosis of NF2. Having the initial genetic testing to determine if the mutation is recognizeable takes approximately 6 months, and then preparing the probes for the PDG testing takes approximately another 6 months.”

PGD can not be used to detect Schwannomatosis?, because the gene for it has not yet been identified.

Foetus:
Chorionic villus sampling or amniocentesis can be used:

*To detect Neurofibromatosis type I?.

*To detect Neurofibromatosis type II? with 95% accuracy.

*Can not be used to detect Schwannomatosis?, because the gene for it has not yet been identified.

Related disorders:
Neurofibromatosis is considered a member of the neurocutaneous syndromes (phakomatoses). In addition to the types of neurofibromatosis, the phakomatoses also include tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood.

Genetics:
Neurofibromatosis type 1 is caused by mutation on chromosome 17q11.2 , the gene product being neurofibromin (a regulator of the GTPase activating enzyme (GAP)). Neurofibromatosis type 2 is due to mutation on chromosome 22q, the gene product is merlin, a cytoskeletal protein.

Both NF-1 and NF-2 are autosomal dominant disorders, meaning only one copy of the mutated gene need be inherited to pass the disorder. A child of a parent with NF-1 or NF-2 and an unaffected parent will have a 50%-100% chance of inheriting the disorder, depending on whether the affected parent is heterozygous (Aa) or homozygous (AA) for the trait (“A” depicts the affected dominant allele, while “a” depics the recessive allele).

NF-1 and NF-2 may be inherited in an autosomal dominant fashion, as well as through random mutation.

 

Complicating the question of heritability is the distinction between genotype and phenotype, that is, between the genetics and the actual manifestation of the disorder. In the case of NF1, no clear links between genotype and phenotype have been found, and the severity and the specific nature of the symptoms may vary widely among family members with the disorder. This is a good example of the phenomenon of variable expressivity: the differing severities of disease in different individuals with the same genotype.  In the case of NF-2, however, manifestations are similar among family members; a strong genotype-phenotype correlation is believed to exist. Both NF-1 and NF-2 can also appear to be spontaneous de novo mutations, with no family history. These cases account for about one half of neurofibromatosis cases.

Similar to polydactyly, NF is also a autosomally dominant mutation, that is not prevalent in the society. Neurofibromatosis-1 is found in approximately 1 in 2,500-3,000 live births (carrier incidence 0.0004, gene frequency 0.0002) and is more common than NF-2.

 

Treatment:
There is at present  no cure for NF but the Neurofibromatosis Association is optimistic that there will be an effective treatment within the next five to ten years. For families with NF, genetic screening and counselling is available.

Most people don’t need any treatment but surgery may be necessary to remove some tumours (such as acoustic neuromas or brain tumours) and this can cause complications such as facial paralysis.

Treatment for complications such as epilepsy is given as appropriate. Vision and hearing are regularly tested. Special education is provided for those children with learning difficulties.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose
Resources:
http://en.wikipedia.org/wiki/Neurofibromatosis
http://www.mayoclinic.com/health/neurofibromatosis/DS01185
http://www.bbc.co.uk/health/physical_health/conditions/neurofibroma1.shtml

http://www.jyi.org/news/nb.php?id=895

https://runkle-science.wikispaces.com/NEUROFIBROMATOSIS

Enhanced by Zemanta

Myoclonus

Definition:
Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. A hiccup is an example of this type of myoclonus. Other familiar examples of myoclonus are the jerks or “sleep starts” that some people experience while drifting off to sleep.  These simple forms of myoclonus occur in normal, healthy persons and cause no difficulties. When more widespread, myoclonus may involve persistent, shock-like contractions in a group of muscles.  Myoclonic jerking may develop in people with multiple sclerosis, Parkinson’s disease, Alzheimer’s disease, or Creutzfeldt-Jakob disease. Myoclonic jerks commonly occur in persons with epilepsy, a disorder in which the electrical activity in the brain becomes disordered and leads to seizures.  Myoclonus may develop in response to infection, head or spinal cord injury, stroke, brain tumors, kidney or liver failure, lipid storage disease, chemical or drug poisoning, or other disorders.  It can occur by itself, but most often it is one of several symptoms  associated with a wide variety of nervous system disorders.

 CLICK & SEE

Myoclonic jerks may occur alone or in sequence, in a pattern or without pattern. They may occur infrequently or many times each minute. Most often, myoclonus is one of several signs in a wide variety of nervous system disorders such as multiple sclerosis, Parkinson’s disease, Alzheimer’s disease, subacute sclerosing panencephalitis and Creutzfeldt-Jakob disease (CJD), serotonin toxicity, and some forms of epilepsy. Some researchers indicate that jerks persistently may even cause early tremors.

In almost all instances in which myoclonus is caused by central nervous system disease it is preceded by other symptoms; for instance, in CJD it is generally a late-stage clinical feature that appears after the patient has already started to exhibit gross neurological deficits.

Anatomically, myoclonus may originate from lesions of the cortex, subcortex or spinal cord. The presence of myoclonus above the foramen magnum effectively excludes spinal myoclonus, but further localisation relies on further investigation with electromyography (EMG) and electroencephalography (EEG).

Types:
In juvenile myoclonic epilepsy, seizures usually involve the neck, shoulders, and upper arms. These seizures typically occur shortly after waking up. They normally begin between puberty and early adulthood. They can usually be controlled with medication, but it must be taken for life.

In rare cases, myoclonic seizures can be symptomatic of Lennox-Gastaut syndrome, beginning in early childhood and usually involving the face, neck, shoulders, and upper arms. In these cases, the seizures tend to be strong and difficult to control.

Progressive myoclonic epilepsy includes both myoclonic and tonic-clonic seizures. Treatment is not normally successful for any extended period of time.

Classifying the many different forms of myoclonus is difficult because the causes, effects, and responses to therapy vary widely. Listed below are the types most commonly described:

*Action myoclonus is characterized by muscular jerking triggered or intensified by voluntary movement or even the intention to move. It may be made worse by attempts at precise, coordinated movements. Action myoclonus is the most disabling form of myoclonus and can affect the arms, legs, face, and even the voice. This type of myoclonus often is caused by brain damage that results from a lack of oxygen and blood flow to the brain when breathing or heartbeat is temporarily stopped.

*Cortical reflex myoclonus is thought to be a type of epilepsy that originates in the cerebral cortex – the outer layer, or “gray matter,” of the brain, responsible for much of the information processing that takes place in the brain. In this type of myoclonus, jerks usually involve only a few muscles in one part of the body, but jerks involving many muscles also may occur. Cortical reflex myoclonus can be intensified when patients attempt to move in a certain way or perceive a particular sensation.

*Essential myoclonus occurs in the absence of epilepsy or other apparent abnormalities in the brain or nerves. It can occur randomly in people with no family history, but it also can appear among members of the same family, indicating that it sometimes may be an inherited disorder. Essential myoclonus tends to be stable without increasing in severity over time. Some scientists speculate that some forms of essential myoclonus may be a type of epilepsy with no known cause.

*Palatal myoclonus is a regular, rhythmic contraction of one or both sides of the rear of the roof of the mouth, called the soft palate. These contractions may be accompanied by myoclonus in other muscles, including those in the face, tongue, throat, and diaphragm. The contractions are very rapid, occurring as often as 150 times a minute, and may persist during sleep. The condition usually appears in adults and can last indefinitely. People with palatal myoclonus usually regard it as a minor problem, although some occasionally complain of a “clicking” sound in the ear, a noise made as the muscles in the soft palate contract.

*Progressive myoclonus epilepsy (PME) is a group of diseases characterized by myoclonus, epileptic seizures, and other serious symptoms such as trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Studies have identified at least three forms of PME. Lafora disease is inherited as an autosomal recessive disorder, meaning that the disease occurs only when a child inherits two copies of a defective gene, one from each parent. Lafora disease is characterized by myoclonus, epileptic seizures, and dementia (progressive loss of memory and other intellectual functions). A second group of PME diseases belonging to the class of cerebral storage diseases usually involves myoclonus, visual problems, dementia, and dystonia (sustained muscle contractions that cause twisting movements or abnormal postures). Another group of PME disorders in the class of system degenerations often is accompanied by action myoclonus, seizures, and problems with balance and walking. Many of these PME diseases begin in childhood or adolescence.

*Reticular reflex myoclonus is thought to be a type of generalized epilepsy that originates in the brainstem, the part of the brain that connects to the spinal cord and controls vital functions such as breathing and heartbeat. Myoclonic jerks usually affect the whole body, with muscles on both sides of the body affected simultaneously. In some people, myoclonic jerks occur in only a part of the body, such as the legs, with all the muscles in that part being involved in each jerk. Reticular reflex myoclonus can be triggered by either a voluntary movement or an external stimulus.

*Spinal myoclonus is myoclonus originating in the spinal cord, including segmental and propriospinal myoclonus. The latter is usually due to a thoracic generator producing truncal flexion jerk. It is often stimulus-induced with a delay due to the slow conducting propriospinal nerve fibers.

*Stimulus-sensitive myoclonus is triggered by a variety of external events, including noise, movement, and light. Surprise may increase the sensitivity of the patient.

*Sleep myoclonus occurs during the initial phases of sleep, especially at the moment of dropping off to sleep. Some forms appear to be stimulus-sensitive. Some persons with sleep myoclonus are rarely troubled by, or need treatment for, the condition. However, myoclonus may be a symptom in more complex and disturbing sleep disorders, such as restless legs syndrome, and may require treatment by a doctor.

 

Symptoms:
Myoclonic seizures can be described as “jumps.” They are caused by rapid contraction and relaxation of the muscles. People without epilepsy can suffer small but similar jerks in the form of hiccups or brief twitches. These are perfectly normal.

In someone with epilepsy, myoclonic seizures cause abnormal movements on both sides of the body at the same time. In reflex epilepsies, myoclonic seizures can be brought on by flashing lights or other environmental triggers (see photosensitive epilepsy).

Familiar examples of normal myoclonus include hiccups and hypnic jerks that some people experience while drifting off to sleep. Severe cases of pathologic myoclonus can distort movement and severely limit a person’s ability to sleep, eat, talk, and walk. Myoclonic jerks commonly occur in individuals with epilepsy. The most common types of myoclonus include action, cortical reflex, essential, palatal, progressive myoclonus epilepsy, reticular reflex, sleep, and stimulus-sensitive.

People with myoclonus often describe the symptoms as “jerks,” shakes” or “spasms” that are:

*Sudden
*Brief
*Involuntary
*Shock-like
*Variable in intensity and frequency
*Localized to one part of the body or all over the body
*Sometimes severe enough to interfere with eating, talking or walking

 

Causes:
Myoclonus may be caused by a variety of underlying problems. Doctors often separate the types of myoclonus based on their causes, which helps determine treatment. Types of myoclonus include the following categories.

Physiological myoclonus

This is the type that occurs in normal, healthy people and rarely needs treatment. Examples include:
*Hiccups
*Sleep starts
*Infant muscle twitching during sleep or after a feeding

Essential myoclonus
Essential myoclonus occurs on its own, typically without other symptoms and without being related to any underlying illness. The cause of essential myoclonus is often unexplained (idiopathic) or, in some cases, hereditary.

Epileptic myoclonus
This type of myoclonus occurs as part of an epileptic disorder. Muscle jerks may be the only symptom or one of many.

Symptomatic (secondary) myoclonus

This is a common form of myoclonus. Muscle jerks occur as a result of an underlying medical problem, such as:
*Head or spinal cord injury or infection
*Stroke
*Brain tumor
*Kidney or liver failure
*Chemical or drug poisoning
*Prolonged oxygen deprivation
*Medication reaction
*Huntington’s disease
*Alzheimer’s disease
*Parkinson’s disease
*Metabolic problems

Treatment:
Discontinuation of drugs suspected of causing myoclonus and treatment of metabolic derangements may resolve some cases of myoclonus.  When pharmacological treatment is indicated anticonvulsants are the main line of treatment. Paradoxical reactions to treatment are notable. Drugs which most people respond to may in other individuals worsen their symptoms. Sometimes this leads to the mistake of increasing the dose, rather than decreasing or stopping the drug.  Treatment of myoclonus focuses on medications that may help reduce symptoms. Drugs used include sodium valproate, clonazepam and some other anticonvulsants such as piracetam and levetiracetam.  Dosages of clonazepam usually are increased gradually until the patient improves or side effects become harmful. Drowsiness and loss of coordination are common side effects. The beneficial effects of clonazepam may diminish over time if the patient develops a tolerance to the drug.

Many of the drugs used for myoclonus, such as barbiturates, phenytoin and primidone, are also used to treat epilepsy. Barbiturates slow down the central nervous system and cause tranquilizing or antiseizure effects. Phenytoin and primidone are effective antiepileptics drugs, although phenytoin can cause liver failure or have other harmful long-term effects in patients with PME. Sodium valproate is an alternative therapy for myoclonus and can be used either alone or in combination with clonazepam. Although clonazepam and/or sodium valproate are effective in the majority of patients with myoclonus, some people have adverse reactions to these drugs.

Some studies have shown that doses of 5-hydroxytryptophan (5-HTP) leads to improvement in patients with some types of action myoclonus and PME. These differences in the effect of 5-HTP on patients with myoclonus have not yet been explained, but they may offer important clues to underlying abnormalities in serotonin receptors.

The complex origins of myoclonus may require the use of multiple drugs for effective treatment. Although some drugs have a limited effect when used individually, they may have a greater effect when used with drugs that act on different pathways or mechanisms in the brain. By combining several of these drugs, scientists hope to achieve greater control of myoclonic symptoms. Some drugs currently being studied in different combinations include clonazepam, sodium valproate, piracetam, and primidone. Hormonal therapy also may improve responses to antimyoclonic drugs in some people.
Prognosis:
Although myoclonus is not a life-threatening condition, it may result in serious, debilitating impairments. Action myoclonus, with its positive and negative myoclonus components, is generally considered the most serious. It varies from person to person as to whether it is life-long.

Research:
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to myoclonus in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Scientists are seeking to understand the underlying biochemical basis of involuntary movements and to find the most effective treatment for myoclonus and other movement disorders. Researchers may be able to develop drug treatments that target specific biochemical changes involved in myoclonus. By combining several of these drugs, scientists hope to achieve greater control of myoclonic symptoms.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://www.ninds.nih.gov/disorders/myoclonus/myoclonus.htm
http://www.mayoclinic.com/health/myoclonus/DS00754
http://en.wikipedia.org/wiki/Myoclonus

Sleep Myoclonus

http://www.buzzle.com/articles/palatal-myoclonus.html

Enhanced by Zemanta