Myotonia congenita and myoadenylate deaminase deficiency: case report.
Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance. However, a deficiency of the enzyme has been described in many conditions, including myopathies, neuropathies, and motor neuron disease. We report a patient with clinical diagnosis of myotonia congenita and absent myoadenylate deaminase reaction on the muscle biopsy. This is the first description of myoadenilate deaminase deficiency with myotonia congenita. Myoadenylate deaminase deficiency is the most common enzymatic deficit of muscle, and the association with other neuromuscular diseases is coincidental.
Scola
Rosana Herminia
RH
Division of Neurology and Neuromuscular Disorders, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil. scola@hc.ufpr.br
Iwamoto
Fabio Massaiti
FM
Camargo
Carlos Henrique
CH
Arruda
Walter Oleschko
WO
Werneck
Lineu Cesar
LC
D000659:AMP Deaminase / Q000172:deficiency*; D001706:Biopsy; D002648:Child; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009224:Myotonia Congenita / Q000201:enzymology* / Q000473:pathology
D000659:AMP Deaminase