Hypothyroidism unmasking proximal myotonic myopathy.

摘要: Abstract No specific diagnostic test is available to identify patients with proximal myotonic myopathy and distinguish them from common disorders causing similar complaints. We describe three separate families who were initially diagnosed as having hypothyroid myopathy. Proximal weakness, stiffness myotonia have persisted in each patient (2–10 years) despite the restoration of euthyroid state. A familial pattern autosomal dominant inheritance for myotonia, cataracts was clearly identified one family likely other two families. DNA testing showed normal size CTG repeat gene dystrophy. The clinical presentation these strongly suggests that hypothyroidism can unmask PROMM asymptomatic individuals carry genetic abnormality. Other cases ‘hypothyroid myopathy’ may represent examples unmasked PROMM.