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Sensorimotor polyneuropathy in patients with SMA type‐1: Electroneuromyographic findings
Author(s) -
Duman Ozgur,
Uysal Hilmi,
Skjei Karen L.,
Kizilay Ferah,
Karauzum Sibel,
Haspolat Senay
Publication year - 2013
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.23722
Subject(s) - sma* , medicine , motor neuron , electrophysiology , spinal muscular atrophy , sural nerve , smn1 , compound muscle action potential , polyneuropathy , sensory system , electromyography , physical medicine and rehabilitation , neuroscience , psychology , anatomy , disease , mathematics , combinatorics
: Generally, spinal muscular atrophy (SMA) is believed to be a pure motor neuron disease. We retrospectively evaluated our electrodiagnostic findings in SMA type 1 patients to demonstrate co‐existence of sensorimotor neuropathies. Methods : Electroneuromyographic (ENMG) studies in 15 patients (11 boys, 4 girls) were reviewed independently by 2 neurophysiologists. Upper extremity findings were compared with normal right arm controls. Results : Patient ages ranged from 1.5 to 26 months. Four SMA patients (26.7%) had decreased sensory nerve action potentials (SNAPs) or sensory nerve conduction velocities. Of them, median SNAPs could not be elicited in 3, and sural SNAPs could not be elicited in 2. Compound muscle action potential amplitudes were severely decreased in 14 (93.3%) and normal in 1. Conclusions : Survival motor neuron 1 ( SMN1 ) gene analysis should be considered if clinical features are consistent with SMA, even if pathological or electrophysiological findings demonstrate peripheral sensorimotor polyneuropathies. Muscle Nerve, 2013