Key result
Clinical, electrophysiological, and muscle biopsy findings in three Swedish patients with proximal muscle weakness and no CTG expansion were compatible with proximal myotonic myopathy (PROMM).
Case Report (n=3)
Highlights the clinical and diagnostic features of proximal myotonic myopathy (PROMM) in patients previously misdiagnosed with atypical myotonic dystrophy.
Prompts inclusion of PROMM in proximal weakness differentials without CTG expansion; leaves open validation in larger cohorts.
Three Swedish patients with proximal muscle weakness, myotonia and lack of CTG expansion on genetical analysis are presented. Clinical neurological and neurophysiological examination and muscle biopsy were performed. There was an indication of autosomal dominant inheritance in 2 of the 3 patients. The main symptoms and clinical findings in the 3 patients were weakness of the proximal muscles, myotonia, muscle stiffness, muscle pain and muscle atrophy. Neurophysiological examination showed myotonic bursts and muscle biopsy snowed a variation of fibre sizes, an increased number of muscle fibres with centralized nuclei and scattered atrophic muscle fibres. Laboratory data showed elevated CK, GT and LD in 1 patient. Before genetical analysis was performed, all 3 patients had been diagnosed as atypical cases of myotonic dystrophy. However, the symptoms, clinical signs, laboratory data, electrophysiological and muscle biopsy findings were compatible with proximal myotonic myopathy (PROMM).
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Schuitevoerder et al. (2009) conducted a case report in Proximal myotonic myopathy (n=3). Clinical, electrophysiological, and muscle biopsy findings in three Swedish patients with proximal muscle weakness and no CTG expansion were compatible with proximal myotonic myopathy (PROMM).
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