ABSTRACT
Twenty five patients with sarcoglycanopathies were studied prospectively. 21 of them had mild phenotype. Muscle involvement was more pronounced in adductor and flexor groups of muscles of the limbs, hip adductor muscles being the weakest. The selective and differential weakness between weak hip adductors and stronger hip abductors resulted in the hip abduction sign in 64% of cases. Distal muscle involvement in lower limbs was seen in 92% of cases, but was mild and late in the course of the disease. 44% patients had winging of scapulae. Immunocytochemistry showed multiple sarcoglycan deficiencies in 84% patients. Primary beta and delta sarcoglycanopathy was seen in the remaining 16% cases. Secondary dystrophin reduction was seen in 44% patients and correlated with beta sarcoglycan deficiency but not with functional disability.
Subject(s)
Adolescent , Adult , Child , Female , Humans , Male , Membrane Glycoproteins/deficiency , Muscular Dystrophies/etiology , Prospective StudiesABSTRACT
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.
Subject(s)
Biopsy, Needle , Cytoskeletal Proteins/deficiency , Deficiency Diseases/diagnosis , Diagnosis, Differential , Humans , Immunohistochemistry , Infant , Infant, Newborn , Male , Membrane Glycoproteins/deficiency , Muscular Dystrophy, Duchenne/diagnosis , Pedigree , Sarcoglycans , Severity of Illness IndexABSTRACT
La tromboastenia de Glanzmann es un trastorno hemorrágico de herencia autosómica recesiva, caracterizado por la ausencia o déficit de complejo glicoproteico IIb/IIIa de la membrana de las plaquetas, que se traduce en alteración de la agregación plaquetaria y sangramientos. Se describre el caso clínico de una niña de tres años de edad con síndrome purpúrico-equimótico y antecedente de hemorragias desde el año de vida, con recuento y morfología plaquetaria normales, tiempo de sangría prolongado, modificación en la retracción del coágulo, ausencia de agregación plaquetaria frente a ADP, colágeno, araquinodato de Na, epinefrina, ionóforo A23187 y agregación subnormal con ristocetina. Mediante técnicas de inmunofluorescencia y anticuerpos monoclonales se confirmó disminución del complejo GP IIb/IIIa de la membrana plaquetaria y reducción en el número de sitios de fijación de este complejo por plaqueta, lo que permite catalogar a la paciente como una variante de tromboastenia de Glanzmann