PROGRESSIVE MUSCULAR DYSTROPHY: AUTOSOMAL RECESSIVE TYPE

[摘要] A description is presented of the autosomal recessive type of childhood muscular dystrophy appearing in 14 members (9 males, 5 females) of one closely inbred kindred. The clinical description of these individuals is supplemented by data on values for proteins, protein-bound iodine, hexosamine and glutamic oxaloacetic transaminase in serum, and excretion of amino acids and creatine-creatinine. In comparing this autosomal recessive type with the more common sex-linked recessive type of childhood muscular dystrophy, the most reliable differentiating feature noted was the presence of dystrophy in a female within a family.The muscle involvement in these two types of diseases was similar except for the preservation of the zygomaticus muscles of the face in the autosomal recessive type as compared with the involvement of these muscles and resultant flat smile in the sexlinked recessive type of dystrophy. Pseudohypertrophy of the calf muscles occurred in 4 of 14 affected individuals of this kindred and therefore cannot be considered a dependable differentiating feature. The patients with the autosomal recessive type of muscular dystrophy had a later age of onset (5 to 13 years), a slower progression and a possible longer life span than those having the sex-linked recessive type. The importance of differentiating muscular dystrophy into types based on mode of inheritance is emphasized.

[学科分类] 儿科学