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 in minimizing its problems. Read latest diseases... Acute Pancreatitis :Acute Pancreatitis is sudden swelling and inflamma..Read More Chronic Pancreatitis:Pancreas is a large gland present near the stomach..Read More Brachial Plexus Neuropathy Syndrome:Brachial plexus neuropathy syndrome, also termed a..Read More Brain Haemorrhage:Brain haemorrhage is a type of stroke wherein dama ..Read More :Parkinson's disease is a motor system disorder tha..Read More Crohn's Disease:Crohn's disease is a painful, recurrent, chronic i