Awareness of Hoffmann syndrome is important as it is an easily treatable hypothyroid myopathy that can mimic muscular dystrophy.
May prevent misdiagnosis of Hoffmann syndrome as muscular dystrophy; leaves open pseudohypertrophy etiology.
Hoffmann syndrome is a specific and very rare form of hypothyroid myopathy occurring in individuals of long standing hypothyroidism in which proximal muscle weakness, muscle stiffness and pseudohypertrophy is seen. The etiology of pseudo hypertrophy in Hoffmans syndrome remains obscure and myopathy may be only clinical findings in these patients to indicate hypothyroidism. These patients are often misdiagnosed as muscular dystrophies of other etiology, so special awareness about this syndrome can lead to accurate diagnosis as this is an easily treatable condition.
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Dudekula et al. (2016) studied this question.
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