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EMG and nerve conduction studies in children with congenital muscular dystrophy
Author(s) -
QuijanoRoy Susana,
Renault Francis,
Romero Norma,
Guicheney Pascale,
Fardeau Michel,
Estournet Brigitte
Publication year - 2004
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.10544
Subject(s) - medicine , electromyography , denervation , muscular dystrophy , congenital muscular dystrophy , motor nerve , sensory nerve , anatomy , sensory system , physical medicine and rehabilitation , neuroscience , psychology
Motor and sensory nerve conduction velocities (NCVs) and needle electromyography (EMG) results were reviewed in 26 children with different types of congenital muscular dystrophy (CMD), including patients with mutations in the genes LAMA2 , FKRP , and COL6A2 . In every patient, at least one EMG examination detected myopathic changes that were predominant in proximal muscles, although EMG performed at birth was normal in two patients. Brief bursts of high‐frequency repetitive discharges were electrically elicited in four patients. Uniformly slowed motor NCVs without signs of denervation were observed in seven patients: five merosin‐deficient, one merosin‐positive, and one with unavailable merosin status. The merosin‐deficient neuropathy also involved sensory nerves in three patients and worsened with age in two. In conclusion, myopathic EMG changes were typical and early findings in all types of CMD. An associated neuropathy was detected in most patients with merosin‐deficient CMD, and also in a child with normal merosin expression. Muscle Nerve 29: 292–299, 2004