Distal hereditary motor neuropathy (dHMN): clinical features
Evidence-based neurology checklist on distal hereditary motor neuropathy (dhmn): clinical features: Peroneal muscular atrophy syndrome Distal atrophy and weakness Atrophy of peroneal and gastrocnemius muscles Foot and toe extension weakness Foot deformities Variant presentations Differential…
Peroneal muscular atrophy syndrome
- Distal atrophy and weakness
- Atrophy of peroneal and gastrocnemius muscles
- Foot and toe extension weakness
- Foot deformities
Variant presentations
Differential diagnosis
References
- Irobi J, De Jonghe P, Timmerman V. Molecular genetics of distal hereditary motor neuropathies. Hum Mol Genet 2004; 13:R195-R202.
- Rossor AM, Kalmar B, Greensmith L, Reilly MM. The distal hereditary motor neuropathies. JNNP 2012; 83:6-14.
- Gess B, Auer-Grumbach M, Schirmacher A, et al. HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. Neurology 2014; 83:1726-1732.
- Blumen SC, Astord S, Robin V, et al. A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. Ann Neurol 2012; 71:509-519.
- Horga A, Tomaselli PJ, Gonzalez MA, et al. SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. Neurology 2016; 87:1607-1612.
