Kennedy Disease

Introduction of Kennedy Disease

Kennedy disease is a rare, X-linked slowly progressiveneuromuscular disorder.

Kennedy disease is typically an adult-onset disease, where symptoms occur
mainly between the ages of 20 and 50. The disease is characterised by symptoms
such as muscle weakness and cramps in the arms, legs, and facial area, enlarged
breasts, and difficulty with speaking and swallowing (dysphagia).

Causes of Kennedy Disease

Kennedy diseaseis an X-linked genetic disorder that occurs primarily in

males. Very rarely, female carriers of the abnormal gene may show symptoms.
It is caused by a mutation in a gene that encodes for a protein known as the
androgen receptor (AR) and was mapped to band Xq11-q12 on the X
chromosome. The instructions within every gene consist of different
arrangements of four basic chemicals (nucleotide bases) called adenine (A),
cytosine (C), guanine (G), and thymine (T). Individuals with the disease have an
abnormal section in the AR gene, which is due to an excessive number of CAG
trinucleotide repetitions in the DNA sequence. An unaffected individual has 1035 CAG repeats in the AR gene while a person with Kennedy disease has more
than 36 CAG repeats in the gene

Symptoms of Myasthenia Gravis

Affected individuals begin to develop neurological symptoms between 20 to 50

years of age. These early symptoms include:
Swallowing difficulties
Speech difficulties
Hand tremors
Shaky muscles when holding certain postures
Muscle weakness
Muscle wastage
Muscle twitches
Muscle cramps and spasms
Enlarged calf muscles due toconstant cramping
Localised areas of numbness
Absent reflexes, such as the foot remaining still when the tendon beneath the
kneecap is tapped
Enlarged breast tissue
Impotence
Low sperm count
Shrunken testicles
Reduced sex drive
The disease affects the lower motor neurons that are responsible for the
movement of many muscles in the legs, arms, mouth, and throat. Affected
individuals will show signs of twitching, often in the tongue or hand, followed
bymuscle weaknessand problems with facial muscles.

Diagnosis of Kennedy Disease

Since Kennedy's disease is rare, it can be misdiagnosed. It is sometimes mistaken

for the more common motor neurone disease (amyotrophic lateral sclerosis), a
progressive nervous system disease characterised by the breaking down
ofneurones in the spinal cord and brain.
Kennedy disease can be diagnosed using a number of tests including:
Blood test to check for elevated serum creatine kinase (CPK):People with
Kennedy disease usually have a greater than average amount of this particular
enzyme circulating in their blood.
Genetic tests using a blood sample:This test can check whether the Kennedy
disease gene is present, even if the person is asymptomatic or a carrier. Genetic
counselling is important.

Treatments of Kennedy Disease

There is nocure for Kennedy disease, because medical science doesn't know
how to regenerate muscle neurones. Treatment aims to ease some of the
symptoms and can include:
Medications to reduce muscle cramps and tremors
Plenty of rest and avoidance of exhaustion
Healthy, balanced diet
Gentle and regular aerobic exercise
Regular stretching to help reduce muscle cramping
Pain management
Speech therapy
Occupational therapy
Physiotherapy

Common treatments for myasthenia gravis include:

Treatments of Virilization

Medications such as Mestinon (pyridostigmine bromide) and Prostigmin

(neostigmine bromide)
Corticosteroid medications such as prednisone
Medications that suppress the immune system, such as Imuran (azathioprine)
and cyclosporine
Removal of thethymus gland(thymectomy), the main gland in the immune
system
Plasma exchange (plasmapheresis), in which the person's blood plasma
containing the abnormal antibodies is removed and fresh plasma is put back
People with myasthenia gravis can in most cases lead full lives. Sometimes the
muscle weakness resolves to the point of not being a problem (called
spontaneous remission). For some people, the weakness is only in the eyelids.
For others, the weakness progresses to a point and stays at that level. Rarely,
and usually in the first two years of the disorder, the weakness might extend to
the muscles that control breathing, and the person will have to be hospitalized.
There is no cure for myasthenia gravis, but the treatments are usually effective
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