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.
Yiu
Eppie M
EM
Children's Neuroscience Centre, Royal Children's Hospital Melbourne, Flemington Road, Parkville, Victoria 3052, Australia.
Ravat
Sangeeta
S
Ryan
Monique M
MM
Shield
Lloyd K
LK
Smith
Lindsay J
LJ
Kornberg
Andrew J
AJ
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