Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene.
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.
Children's Neuroscience Centre, Royal Children's Hospital Melbourne, Flemington Road, Parkville, Victoria 3052, Australia.
Eppie M
EM
Yiu
Sangeeta
S
Ravat
Monique M
MM
Ryan
Lloyd K
LK
Shield
Lindsay J
LJ
Smith
Andrew J
AJ
Kornberg
D000293:Adolescent; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics*; D004247:DNA / Q000096:biosynthesis / Q000235:genetics; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D006984:Hypertrophy; D007866:Leg / Q000473:pathology*; D008297:Male; D018908:Muscle Weakness / Q000209:etiology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics* / Q000473:pathology*
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D004247:DNA