Childhood onset of limb-girdle muscular dystrophy.

Abstract

Limb-girdle muscular dystrophies comprise a rare heterogeneous group of genetic muscular dystrophies, involving 15 autosomal recessive subtypes and seven autosomal dominant subtypes. Autosomal recessive dystrophy is far more common than autosomal dominant dystrophy. Typical clinical features include progressive limb muscle weakness and atrophy (proximal greater than distal), varying from very mild to severe. Significant overlap of clinical phenotypes, with genetic and clinical heterogeneity, constitutes the rule for this group of diseases. Muscle biopsies are useful for histopathologic and immunolabeling studies, and DNA analysis is the gold standard to establish the specific form of muscular dystrophy. A definitive diagnosis among various subtypes is challenging, and the data presented here provide neuromuscular clinicians with additional information to help attain that goal.

• Authors: Xiomara Q Rosales, Roula al-Dahhak, Chang-Yong Tsao
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 46 Issue 1 Pg. 13-23 (Jan 2012) ISSN: 1873-5150 [Electronic] United States
• PMID: 22196486 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2012 Elsevier Inc. All rights reserved.

Chemical References

• FKTN protein, human
• Membrane Proteins
• Muscle Proteins
• Mannosyltransferases
• protein O-mannosyltransferase

Topics

• Child
• Diagnosis, Differential
• Genetic Linkage
• Humans
• Mannosyltransferases (genetics)
• Membrane Proteins (genetics)
• Muscle Proteins (genetics)
• Muscular Dystrophies, Limb-Girdle (classification, genetics, pathology, therapy)