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Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene
Author(s) -
Yiu Eppie M.,
Ravat Sangeeta,
Ryan Monique M.,
Shield Lloyd K.,
Smith Lindsay J.,
Kornberg Andrew J.
Publication year - 2008
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.21013
Subject(s) - spinal muscular atrophy , sma* , muscle hypertrophy , exon , atrophy , motor neuron , weakness , biology , smn1 , gene , medicine , anatomy , endocrinology , spinal cord , genetics , neuroscience , mathematics , combinatorics
Spinal muscular atrophy (SMA) is generally associated with proximal weakness and muscle wasting. An X‐linked variant with calf hypertrophy has been reported. We describe a young man with SMA type 4 with prominent calf hypertrophy in whom DNA analysis showed a homozygous deletion of exons 7 and 8 in the telomeric copy of the survival motor neuron gene. Calf hypertrophy may be seen uncommonly in autosomally inherited SMA. Muscle Nerve, 2008