Limb-girdle muscular dystrophy in childhood.
LGMD refers to a class of muscular dystrophies with onset in the proximal muscles. They are genetically heterogeneous, with both autosomal recessive and dominant forms. The autosomal recessive forms are more common and in general follow a more severe course compared to the dominant forms. It is important to reach a specific genetic diagnosis beyond making a group diagnosis of LGMD to provide adequate genetic counseling, to predict risks for the patient such as the development of cardiomyopathy, and to be able to take advantage of specific treatments when they become available. Establishing a specific diagnosis requires knowledge about the individual clinical features, expert analysis of the muscule biopsy, and the guided initiation of appropriate genetic testing.
Bönnemann
Carsten G
CG
Division of Neurology and Neuromuscular Program, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. bonnemann@email.chop.edu
D001706:Biopsy; D002648:Child; D003937:Diagnosis, Differential; D018450:Disease Progression; D004502:Education, Medical, Continuing; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009124:Muscle Proteins / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010372:Pediatrics / Q000193:education; D010430:Pentosyltransferases; D011494:Protein Kinases / Q000235:genetics; D011506:Proteins / Q000235:genetics
D008565:Membrane Proteins; D009124:Muscle Proteins; D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases; D011494:Protein Kinases