Kennedy Disease
Definition:

Kennedy disease is a rare hereditary disease affecting the nerves and muscles (neuromuscular). Females can be carriers of the disease but only males present the symptoms of the disease. Kennedy Disease is also known as X-linked spinal and bulbar muscular atrophy.


Treatment:

There is still no known treatment for Kennedy Disease.


Symptoms and Signs:

Initial presentations include: * Weakness of the tongue and mouth muscles * Facial weakness * Weakness of limb muscles that increases little by little usually comes with muscle wasting. * Some cases present premature music fatigue usually beginning during the adolescent years. Neuromuscular Symptoms include: * Difficulty in swallowing * Impairment in speech * Tongue weakness * Hand tremor with volitional effort * Unremarkable loss of sensation and numbness * Shrinking deep tendon reflexes than may progress to complete absence; usually noted when the doctor taps the knee with his hammer * Muscle weakness and muscle wasting * Muscular cramps * Muscular atrophy * Muscle jerks when not in motion Other Symptoms * Enlargement of the breast (gynecomastia) * Testicles decrease in size with remarkably lesser function * Reduced fertility * Impotence * Erectile dysfunction


Causes:

Kennedy disease is primarily caused by spreading out of a CAG repeat in the first region of DNA (exon) of the androgen receptor gene.


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