Distal spinal muscular atrophy (Mentions HMSN-CMT)

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Abstract J Assoc Physicians India. 2003 Nov;51:1113-5. Related

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Distal spinal muscular atrophy.

Muthukrishnan J, Varadarajulu R, Mehta SR, Singh AP.

Department of Medicine, Armed Forces Medical College, Pune, India.

Spinal muscular atrophies (SMA) are clinically heterogenous group of

motor system disorders characterised by progressive pure lower motor

neuron involvement. The distal form of SMA is an extremely rare

disorder, which presents in the adults and has a relatively slow

progression with almost no effect on the patients' life-span.

Differential diagnosis of this syndrome include other forms of

neuromuscular disorders with peroneal muscular atrophy like hereditary

motor sensory neuropathy (HMSN) and distal myopathies, which need

exclusion before confirming this rare entity. We present a young male

with this disorder and briefly discuss the theoretical aspects.