Slowly progressive muscle weakness and atrophy; some facial weakness and fasciculation, tremor of the hands, wasting of the tongue, often dysarthria and dysphagia (disturbed speech and swallow experienced later in the course of the disease).
Kennedy's disease is a rare inherited neuromuscular disorder that causes progressive weakening and wasting of the muscles, particularly the arms and legs. Other major symptoms include severe cramps and problems with speech and swallowing. The disease progresses slowly, and life expectancy is usually normal. Kennedy's disease is also known as X-linked spinal bulbar muscular atrophy (SBMA). There is no cure yet, and treatment can only ease some of the symptoms.
Symptoms of Kennedy Disease
Symptoms of Kennedy disease have a late apparent onset. They could become apparent in 20's or 30's, but might not appear until the 60's or 70's. They also have a slow progression and exhibit asymmetrical clinical signs. This means that muscles of one side may be more affected than the same muscles on the other side. Following are the symptoms of Kennedy disease characteristically.
- Bulbar Signs- The Bulbar muscles are those supplied by the motor nerves coming off the brain stem which control breathing, swallowing, talking and other functions of the throat. Bulbar signs are problems with these functions.
- Dysphagia- Trouble swallowing. (One of the Bulbar signs.)
- Intention Tremor- Hand tremors when trying to do something.
- Normal Babinski- Normal plantar response, i.e., when the bottom of the foot is scraped, the toes bend down. An abnormal response would be an upward bending of the toes indicating a problem in the brain itself.
- Lower Motor Neuropathy- The lower motor nerves are those that run from the spinal cord to the muscles that they stimulate to move. Loss of that nerve leads to weakness and wasting of the muscle.
- Primary Sensory Neuropathy- Numbness over certain areas. Loss of sensation.
- Decreased or Absent Deep Tendon Reflexes- When a doctor taps the knee with his hammer there is no response.
- Fasciculations- Twitching of small muscles without purposeful movement, that can be seen through the skin.
- Cramps- Large muscle spasms.
- Postural Tremor- Shaky muscles with certain positions.
- Muscular Atrophy- Wasting and shrinkage of muscles that occurs when the lower motor nerve does not stimulate the muscle adequately.
- Hypertrophied Calves- Calf muscles that become thicker because of cramps.
- Gynecomastia- Enlarged breasts.
- Androgen Deficiency- Loss of masculinising effect.
- Oestrogen Excess- More of an apparent oestrogen effect because of the lost of masculinising effect.
- Impotence- Erectile dysfunction.
- Reduced Fertility- Low sperm count.
- Testicular Atrophy- Testicles become smaller and less functional.
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 of neurones in the spinal cord and brain.
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