Clean FRCS notes with inline figures
Peroneal muscle atrophy
•Hereditary motor sensory neuropathy
| Type / group | Definition / note |
|---|---|
| 1 | 2500, most common, affect motor more, usually AD (can be AR, X-linked) |
•Peripheral myelin protein 22 (PMP22)
•Duplication of chromosome 17
3 main types
•Demyelinating, 10-20s, AD, cavus foot
•Axonopathy, 20s+, AD, flaccid foot, less disabling
•Both demyelinating and axonal degeneration
Presenting sx:
•Motor deficits (weakness, instability, clumsiness, frequent ankle sprains, difficulty with stairs)
•Lateral foot pain
•Sensory deficit
Examination
•Cavovarus +/- rigid hindfoot
•Weakened TibAnt and peroneal muscles (foot drop during swing phase)
•Hyporeflexia or areflexia
Other ortho manifestations:
•Hip dysplasia
•Scoliosis
•Hand muscle atrophy and weakness (claw hands)
•Dx
•NCV/ EMG
•DNA – look for PMP22 gene mutation
•chromosome analysis – duplication of chromosome 17
