Abstract:We report on a 16-year-old Dutch patient in whom rippling muscle disease (RMD) was diagnosed years after his mother had been falsely diagnosed with acid maltase deficiency. The autosomal dominant mode of inheritance of the neuromuscular symptoms in this family had led to a re-evaluation of the diagnosis of acid maltase deficiency. Physical examination revealed the three key features leading to the clinical diagnosis of RMD: rippling, mounding, and percussion-induced rapid muscle contraction. Mutation analysis … Show more
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