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Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation
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, gluteu...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society of Internal Medicine
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5635313/ https://www.ncbi.nlm.nih.gov/pubmed/28794355 http://dx.doi.org/10.2169/internalmedicine.6957-15 |
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author | Kojima, Yuta Noto, Yu-ichi Takewaki, Daiki Tokuda, Naoki Shiga, Kensuke Hamano, Ai Mizuta, Ikuko Muranishi, Manabu Kasai, Takashi Nakagawa, Masanori Mizuno, Toshiki |
author_facet | Kojima, Yuta Noto, Yu-ichi Takewaki, Daiki Tokuda, Naoki Shiga, Kensuke Hamano, Ai Mizuta, Ikuko Muranishi, Manabu Kasai, Takashi Nakagawa, Masanori Mizuno, Toshiki |
author_sort | Kojima, Yuta |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5635313 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | The Japanese Society of Internal Medicine |
record_format | MEDLINE/PubMed |
spelling | pubmed-56353132017-10-12 Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation Kojima, Yuta Noto, Yu-ichi Takewaki, Daiki Tokuda, Naoki Shiga, Kensuke Hamano, Ai Mizuta, Ikuko Muranishi, Manabu Kasai, Takashi Nakagawa, Masanori Mizuno, Toshiki Intern Med Case Report 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. The Japanese Society of Internal Medicine 2017-08-10 2017-09-01 /pmc/articles/PMC5635313/ /pubmed/28794355 http://dx.doi.org/10.2169/internalmedicine.6957-15 Text en Copyright © 2017 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Kojima, Yuta Noto, Yu-ichi Takewaki, Daiki Tokuda, Naoki Shiga, Kensuke Hamano, Ai Mizuta, Ikuko Muranishi, Manabu Kasai, Takashi Nakagawa, Masanori Mizuno, Toshiki Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation |
title | Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation |
title_full | Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation |
title_fullStr | Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation |
title_full_unstemmed | Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation |
title_short | Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation |
title_sort | characteristic posterior-dominant lower limb muscle involvement in limb-girdle muscular dystrophy due to a dnajb6 phe93leu mutation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5635313/ https://www.ncbi.nlm.nih.gov/pubmed/28794355 http://dx.doi.org/10.2169/internalmedicine.6957-15 |
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