title: Case-of-the-month: autosomal recessive myotonia congenita: marked muscle weakness in a 16-year-old boy.
abstract: A 16-year-old boy had a 10-year history of stiffness in leg muscles. There was marked weakness of neck flexors, shoulder abductors, and ankle dorsiflexors, with hypertrophy of most muscle groups and both action and percussion myotonia. The parents were normal. Motor unit potential mean duration was reduced in the weakest muscle (tibialis anterior), and a biopsy of the same muscle showed only minimal abnormalities. Exercise and repetitive stimulation (30 Hz) of the tibialis anterior disclosed a decline in the compound muscle action potential that appeared to correlate with the muscular weakness.
authors.affiliation: Department of Neurology, California Pacific Medical Center, San Francisco 94118.
authors.forename: R G
authors.initials: RG
authors.lastname: Miller
authors.forename: F
authors.initials: F
authors.lastname: Buchthal
mesh_terms: D000293:Adolescent; D005071:Evoked Potentials; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology / Q000503:physiopathology*; D009224:Myotonia Congenita / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*