Atrophy ; Brain ; pathology ; Child ; Female ; Humans ; Muscle Fibers, Slow-Twitch ; pathology ; Neuromuscular Diseases ; congenital ; pathology

Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare but distinct form of nonprogressive, congenital myopathy. CMNDU1 is characterized by a type 1 muscle fiber content of more than 99%. This condition has only been previously described in a few reports. The authors report an 11-year-old girl who exhibited delayed developmental milestones, proximal muscle weakness, and bilateral ptosis. Her serum creatine kinase level was normal but an electromyographic study showed myopathic changes. A biopsy specimen from the left deltoid muscle revealed a uniformity of type 1 fibers (greater than 99%) with a moderate variation in fiber size. This is the first case of CNMDU1 reported in Korea.
Biopsy ; Child ; Developmental Disabilities/*pathology ; Female ; Human ; Muscle Fibers, Slow-Twitch/*pathology ; Muscle, Skeletal/*pathology ; Neuromuscular Diseases/congenital/*pathology

All the diagnostic muscle biopsy cases were collected from the file of Department of Pathology, Seoul National University Hospital during June 1976 to December 1978. Slides were reviewed and correlated with clinical informations. Two hundred seventy four cases showed pathological changes, which were classified into six large groups (Table 1). Neurogenic atrophy was most common, 97 cases (35%), including 71 cases of motor neuron disease and 22 cases of peripheral neuropathy. Muscular dystrophy was seen in 92 cases (34%), and Duchenne type was the commonest among them (51 cases). Fifty seven cases showed inflammatory myopathy, making 20% of all cases. There were four cases of congenital myopathy and 13 cases showed various muscle diseases.
Adult ; Aged ; Child, Preschool ; Female ; Humans ; Infant ; Korea ; Male ; Middle Aged ; Motor Neurons/*pathology ; Muscular Diseases/congenital/*epidemiology/immunology ; Muscular Dystrophies/*epidemiology ; Neuromuscular Diseases/*epidemiology