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- This is a genetic disorder related to a problem in the number 9 chromosome. It is marked by various symptoms of dysfunction of the cerebellum. The cerebellum is the lower part of the brain involved in the sense of balance, and may also affect the spinal cord.
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- Unbalanced walking (ataxia)
- Leg weakness and paralysis
- Hands are clumsy
- Decreased sensation
- Slurred speech
- Nystagmus -- involuntary and rapid eye movements
- Scoliosis and kyphoscoliosis of the
spine (curving or bending of the spine)
- Heart Failure can also occur
- Sensory changes with numbness and tingling
- Heart arrhythmias
- Hammer toes
- Mentation is normal
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- Examination by a neurologist
- Electromyography
studies (EMG) -- electrical conduction studies
- Muscle biopsy may be done rule out other diseases
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Surgery for scoliosis
Physical therapy, rehabilitation, and use of devices (e.g., canes, walkers, utensils, etc.).
Genetic counseling, if you are planning to have children.
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