LIMB-GIRDLE MUSCULAR DYSTROPHY: CLINICAL MANIFESTATIONS AND DETECTION OF PRECLINICAL DISEASE

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Abstract
The clinical picture of limb-girdle muscular dystrophy is described as seen in 37 affected individuals from two large Amish kindreds. The disease is characterized by an autosomal recessive mode of inheritance with as many females as males being affected, and with affected individuals being the product generally of consanguineous matings. The age of onset was observed to be between 4 and 15 years of age (average 8½) with a quite variable age of confinement to a wheelchair (12 to 44 years ). The disease was compatible with a life span in one patient to 67 years of age. The involvement of proximal shoulder and pelvic girdle muscles was similar to that in the X-linked recessive, Duchenne type of muscular dystrophy; however, the zygomaticus muscles of the face are preserved and a normal upturned smile is noted in this type of muscular dystrophy rather than the flat transverse smile noted in the X-linked recessive type. Muscle biopsy abnormalities in two individuals very early in the course of their disease suggest that biopsy would probably be useful in detection of preclinical disease in this type of muscular dystrophy. Gross abnomalities of serum enzymes in 12 younger siblings of affected individuals in these two families suggest that these enzyme determinations are useful in detecting preclinical, limb-girdle muscular dystrophy. When therapy for muscular dystrophy becomes available, the determination of preclinical disease by these techniques will become of greater clinical significance.