Adhalin deficiency: an unusual cause of muscular dystrophy.
Childhood muscular dystrophies have a wide clinical spectrum, motor disability and are variably inherited. Although the phenotype may appear similar they may represent distinct genetic entities. Advances in immunohistochemistry, gene deletion and linkage studies have enabled precise characterization. We report a family with an early onset weakness and calf pseudo hypertrophy in 2 male sibs with an usually mild course. Deletion screening was negative for 24 exons of the DMD gene in both. Muscle immunohistochemistry revealed normal dystrophin I and II staining but complete absence for adhalin, a dystrophin associated glycoprotein. Classifying them as adhalinopathy. Severe childhood autosomal recessive muscular dystrophies (SCARMD) result from mutation in the sarcoglycan complex (59). Adhalinopathy is now used to describe SCARMD. The adhalinopathy described in our patients is the first report from India.
Dua
T
T
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Kalra
V
V
Sharma
M C
MC
Kabra
M
M
D001707:Biopsy, Needle; D003598:Cytoskeletal Proteins / Q000172:deficiency*; D003677:Deficiency Diseases / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency*; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D049031:Sarcoglycans; D012720:Severity of Illness Index
D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans