Patterns of alkaline and acid phosphatases were compared with the distribution of merosin and dystrophin staining in muscle biopsies from 20 children with congenital muscular dystrophy (CMD) examined at the Department of Neurology, Washington University School of Medicine, St Louis, MO. A ratio of AcP:AlkP staining was calculated for each biopsy. In 9 patients with CMD with normal dystrophin, the AcP:AlkP ratio was low, whereas in 3 patients with CMD and reduced dystrophin and in 7 with Duchenne muscular dystrophy, the ratio was up to 15 times higher. Low AcP:AlkP ratios were correlated with absence of AcP-positive cells. Merosin staining was absent in 5 of 17 CMD patients, none of whom could walk, whereas all 12 with merosin-positive stains walked. [1]

COMMENT. Biopsies showing few acid phosphatase-positive cells in association with numerous alkaline phosphatase staining muscle fibers are specific for congenital muscular dystrophy syndromes and histopathological support for the diagnosis. A finding of reduced merosin in muscle is predictive of severe weakness and disability.

Classical (Occidental) Merosin-positive form of CMD was milder and more slowly progressive than the merosin-negative form and Fukuyama type in a clinical and pathological study of 50 patients examined at the National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. [2]

Cognitive dysfunction in Becker’s muscular dystrophy was the major presenting feature in 4 patients reported from the Children’s Hospital, Boston, the Texas Children’s Hospital, Houston, and other centers [3]. Psychiatric disturbance was also a feature in the absence of muscle weakness. An elevated serum creatine kinase may provide a valuable screening test in boys with unexplained cognitive or psychiatric disturbance. One patient had received various drugs used for ADHD before diagnosis was determined.