Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation
Yuta KojimaYu-ichi NotoDaiki TakewakiNaoki TokudaKensuke ShigaAi HamanoIkuko MizutaManabu MuranishiTakashi KasaiMasanori NakagawaToshiki Mizuno
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2017 Volume 56 Issue 17 Pages 2347-2351


A 41-year-old man presented with gradually progressing proximal-dominant lower limb atrophy and weakness. His brother, mother and maternal aunt had the same symptoms. A physical examination and muscle imaging (CT and ultrasound) showed selective muscle involvement of the bilateral paraspinal, gluteus and posterior groups of lower limb muscles. Based on the characteristic muscle involvement pattern, the clinical findings and the muscle biopsy results, we made a straightforward diagnosis of limb-girdle muscular dystrophy (LGMD) due to a DNAJB6 Phe93Leu mutation based on a targeted gene analysis. In the differential diagnosis of adult-onset LGMD syndromes, in addition to investigating the family history, it is important to perform an extensive physical examination to determine the pattern of muscle involvement, and to perform a muscle biopsy. Our case suggests that posterior-dominant lower limb muscle impairment with gluteus and truncal muscle involvement and the detection of rimmed vacuoles on a muscle biopsy could be clues for the diagnosis of LGMD due to DNAJB6 mutations.

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© 2017 by The Japanese Society of Internal Medicine
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