Key result
Concurrent myotonia congenita and myoadenylate deaminase deficiency suggests associations with neuromuscular diseases are coincidental.
Case Report (n=1)
Reports the first case of myotonia congenita co-occurring with myoadenylate deaminase deficiency, highlighting that this common enzymatic deficit's association with other neuromuscular diseases is likely coincidental.
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Co-occurrence appears coincidental; leaves open whether myoadenylate deaminase deficiency modifies myotonia congenita phenotypes in larger cohorts.
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.
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Scola et al. (2003) conducted a case report in Myotonia congenita and myoadenylate deaminase deficiency (n=1). Myoadenylate deaminase deficiency was evaluated. A patient was identified with both myotonia congenita and myoadenylate deaminase deficiency, suggesting the association between this common enzymatic deficit and other neuromuscular diseases is coincidental.
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