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Thursday, 5 July 2012

Hereditary neuropathy

- Charcot Marie Tooth (CMT) disease is the most common type of hereditary neuropathy

CMT type 1 (AD)
- usually presents in the first to third decade of life with distal leg weakness (eg: footdrop)
- muscle stretch reflexes are unobtainable or reduced throughout
- pes cavus
- often atrophy of muscles below knee (inverted champagne bottle leg)
- nerve conduction is very reduced

CMT type 2 (AD)
- tends to present later in life compared to type 1 and much milder
- nerve conduction is only very slightly reduced or normal

CMT type 3 / Dejerine Sottas (AR)
- presenting in infancy or early childhood
- affected children are severely weak
- typically associated with enlargement of peripheral nerves


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