Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene

• Published in: Muscle & nerve Vol. 38; no. 1; pp. 930 - 932
• Main Authors: Yiu, Eppie M., Ravat, Sangeeta, Ryan, Monique M., Shield, Lloyd K., Smith, Lindsay J., Kornberg, Andrew J.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.07.2008; Wiley
• Subjects: Adolescent; Biological and medical sciences; creatine kinase; Cyclic AMP Response Element-Binding Protein - genetics; Diseases of striated muscles. Neuromuscular diseases; DNA - biosynthesis; DNA - genetics; Exons; Gene Deletion; Humans; Hypertrophy; Leg - pathology; Male; Medical sciences; Muscle Weakness - etiology; Nerve Tissue Proteins - genetics; Neurology; Oculomotor disorders; Ophthalmology; pediatric/adolescent; RNA-Binding Proteins - genetics; SMN Complex Proteins; Spinal Muscular Atrophies of Childhood - genetics; Spinal Muscular Atrophies of Childhood - pathology; spinal muscular atrophy; survival motor neuron gene; Pediatrics; Ox; Motor neuron; Weakness; Deletion; Degenerative disease; Muscle; creatine kinase; spinal muscular atrophy; Ungulata; survival motor neuron gene; Human; Nervous system diseases; Neuromuscular diseases; pediatric/adolescent; Spinal amyotrophy; Calf; Survival; Vertebrata; Mammalia; DNA; Central nervous system disease; Adolescent; Artiodactyla; Spinal cord disease; Hypertrophy
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.21013

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