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Congenital muscular dystrophy (CMD) syndromes are characterized clinically by diffuse muscular weakness presenting in the newborn period and early development of contractures. Laboratory findings in CMD include mildly elevated CK and dystrophic changes on muscle biopsy. [1-4] Intelligence is normal in the majority of patients with the Occidental form of CMD. In Fukuyama-type CMD, moderate to severe mental retardation is present. [4] Most of the pathologic findings in muscle, including fibrosis, variation in fiber size, hypercontracted fibers, and regenerating fibers, are not specific for CMD. Merosin may be absent in some children with Occidental CMD. [5] Some CMD syndromes without merosin have been linked to chromosome 6q2. [6] In our initial review of several CMD biopsies, we noted a second distinct change--few of the acid phosphatase (AcP)-positive cells that are usually associated with muscle fiber turnover in the setting of numerous alkaline phosphatase (AlkP)-positive, presumably regenerating or immature, muscle fibers. In this study, we pursued this observation by comparing patterns of acid and AlkP staining with the distribution of merosin and dystrophin in muscles from CMD patients and controls.
Methods.
Patients.
We reviewed the muscle biopsies (mean age at the time of biopsies, 3.5 plus minus 3.9 yr) from 20 children with CMD syndromes who met three criteria: (1) diffuse muscular weakness in the first year of life, (2) contractures at birth or by 2 years of age, and (3) dystrophic muscle biopsies with diffuse endomysial fibrosis and variation in muscle fiber size. We collected control biopsies from seven patients with Duchenne muscular dystrophy (DMD) (5.8 plus minus 2.2 yr), one with patient infantile facioscapulohumeral dystrophy (2.0 yr), six patients with centronuclear myopathy (2.1 plus minus 3.7 yr), five patients with central core disease (4.5 plus minus 2.9 yr), and 15 normal individuals (5.2 plus minus 4.5 yr).
Histochemistry.
Muscle biopsies were frozen …
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