Madoka Mori‐Yoshimura

National Center of Neurology and Psychiatry

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Ichizo Nishino

National Center of Neurology and Psychiatry

104

Yasushi Oya

National Center of Neurology and Psychiatry

Yuji Takahashi

The University of Tokyo

Hirofumi Komaki

National Center of Neurology and Psychiatry

Miho Murata

Osaka University

S. Noguchi

National Center of Neurology and Psychiatry

Yukiko Hayashi

Tokyo Medical University

Harumasa Nakamura

National Center of Neurology and Psychiatry

Elena Pegoraro

University of Padua

Volker Straub

Newcastle upon Tyne Hospitals NHS Foundation Trust

Cooperative Institutions

National Center of Neurology and Psychiatry

216

The Ohio State University Wexner Medical Center

123

Newcastle University

108

National Hospital Organization

University College London

The University of Tokyo

Nagoya University

Kyoto University

Osaka University

Brigham and Women's Hospital

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Hypomethylation of contracted D4Z4 repeats in facioscapulohumeral muscular dystrophy

medRxiv (Cold Spring Harbor Laboratory) (2022)

Yosuke Hiramuki Yuriko Kure Yoshihiko Saito Megumu Ogawa Keiko Ishikawa

Summary Facioscapulohumeral muscular dystrophy (FSHD) can be subdivided into two types: FSHD1, caused by contraction of the D4Z4 repeat on chromosome 4q35, and FSHD2, caused by mild contraction of the D4Z4 repeat plus aberrant hypomethylation mediated by genetic variants in SMCHD1, DNMT3B , or LRIF1 . Genetic diagnosis of FSHD is challenging because of the complex procedures required. Here, we applied Nanopore CRISPR/Cas9-targeted resequencing for the diagnosis of FSHD by simultaneous detection of D4Z4 repeat length and methylation status at nucleotide level in genetically-confirmed and suspected patients. We found significant hypomethylation of contracted D4Z4 repeats in FSHD1 and strong correlation between methylation rate and patient phenotype. This finding can explain how repeat contraction contributes to disease pathogenesis by activating DUX4 expression.

Facioscapulohumeral muscular dystrophy

DNMT3B

10.1101/2022.06.24.22276750

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Paramyotonia congenita with persistent distal and facial muscle weakness: A case report with literature review

Research Square (Research Square) (2019)

Tomoya Taminato Madoka Mori‐Yoshimura Jun Miki Ryogen Sasaki Noriko Satoh

Abstract Introduction Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient muscle stiffness, usually induced by exposure to cold and aggravated by exercise, is the predominant clinical symptom, and interictal persistent weakness is uncommon. Case presentation We report a family with a history of PC accompanied by persistent distal hand dominant muscle weakness with masticatory muscle involvement. Persistent weakness was exacerbated with age, and MR analysis showed marked atrophy of temporal, masseter, and finger flexor muscles with fatty replacement. Cases within the family harbor the prevalent PC causative mutation, T1313M, in the SCN4A gene. Administration of acetazolamide chloride improved clinical symptoms and the results of cold and short exercise tests. Phenotypic variation within the family was remarkable, as the two younger affected patients did not present with persistent weakness or muscle atrophy. Conclusions PC associated with the T1313M mutation is a possible cause of persistent distal hand weakness.

Channelopathy

Muscle weakness

Facial weakness

Myotonia congenita

Proximal muscle weakness

Muscle cramp

10.21203/rs.2.359/v2

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Citations (0)

Childhood-onset anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) necrotizing myopathy needs to be distinguished from muscular dystrophy: A case study

Rinsho Shinkeigaku (2017)

Yuka Hama Madoka Mori‐Yoshimura Hirofumi Komaki Shigeaki Suzuki Hitoshi Kohsaka

症例は24歳女性．家族歴なく発達は正常で運動は得意であった．13歳，歩行困難となりCK値1×104IU/l台，筋生検で筋ジストロフィーと診断された．16歳，独歩不能となり当院を受診した．選択性を欠く瀰漫性の筋萎縮，MRI STIRで不均一な高信号域，筋生検で壊死再生と単核球浸潤があり炎症性筋疾患と診断し，免疫療法後に独歩可能となった．のちに抗HMGCR（3-hydroxy-3-methyl-glutaryl-CoA reductase）抗体陽性が判明した．治療可能な炎症性筋疾患と筋ジストロフィーの鑑別には，病歴や家族歴，罹患筋の選択性，画像・病理で炎症を示唆する所見を統合し判断する必要がある．

Coenzyme A

10.5692/clinicalneurol.cn-001040

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Citations (2)

Social difficulties and costs/burden of adult Duchenne muscular dystrophy in Japan: A questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy)

Research Square (Research Square) (2023)

Madoka Mori‐Yoshimura Keiko Ishigaki Yuko Shimizu‐Motohashi Naoko Ishihara Atushi Unuma

Abstract Background Little is known about the social difficulties, economic burden, and health care needs of adult Duchenne muscular dystrophy (DMD) patients in Japan, as well as the financial and physical stress experienced by their caregivers. This study aimed to clarify the social circumstances surrounding adult DMD patients and assess the degree of involvement of family members in their care and the associated economic burden of the disorder in Japan. Methods Adult DMD patients were identified through the Registry of Muscular Dystrophy (Remudy) in Japan and invited to complete a questionnaire together with a caregiver. Data on health care use, quality of life, work status, informal care, and household expenses were collected to estimate the costs associated with DMD from social and caregiver household perspectives. Results In total, 234 (63.7%) of 367 adult DMD patients (mean age, 27.4 ± 6.0; range, 20–48 years) completed the questionnaire. Of these, 38 (21%) had developmental disorders (mental retardation, autism, and learning disorders), 57 (33%) experienced bullying in school, and 44 (77%) indicated the reason for bullying to be their physical handicap. Employment histories were noted by 72 (31%), although 23 (10%) lost their jobs mainly due to physical difficulties. Of the 234 patients, 164 (74%) lived with their relatives, and 78% of care time was supplied by family members, in particular, their mothers. The mean rate of care work provided by family members was 81%. Household income of families with an adult DMD patient was lower, whereas the rate of living with parent(s) and grandparent(s) was higher, in comparison with the general Japanese population. Conclusions Adult DMD patients in Japan experience many social difficulties from childhood up to adulthood. As adults, many DMD patients experience bullying and workplace difficulties. Families were found to provide most of the care and financial support for DMD patients. Our results suggest the need to improve public patient care systems, including financial support, to address the physical and economic burdens of care for adult DMD patients in Japan.

Caregiver Burden

Household income

Family income

10.21203/rs.3.rs-2632486/v1

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Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review

Journal of Neuromuscular Diseases (2020)

Tomoya Taminato Madoka Mori‐Yoshimura Jun Miki Ryogen Sasaki Noriko Sato

Background:Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient muscle stiffness, usually induced by exposure to cold and aggravated by exercise, is the predominant clinical symptom, and interictal persistent weakness is uncommon. Ca se report:We report a family with a history of PC accompanied by persistent hand muscle weakness with masticatory muscle involvement. Persistent weakness was exacerbated with age, and MR analysis showed marked atrophy of temporal, masseter, and finger flexor muscles with fatty replacement. The PC causative mutation T1313M in the SCN4A gene was prevalent in the family. Administration of acetazolamide chloride improved clinical symptoms and the results of cold and short exercise tests. Phenotypic variation within the family was remarkable, as the two younger affected patients did not present with persistent weakness or muscle atrophy. Conclusions:PC associated with the T1313M mutation is a possible cause of persistent distal hand weakness.

Channelopathy

Muscle weakness

Facial weakness

Myotonia congenita

Muscle cramp

Proximal muscle weakness

10.3233/jnd-190440

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Citations (5)

Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation

Brain and Development (2019)

Chihiro Matsumoto Madoka Mori‐Yoshimura S. Noguchi Yukari Endo Yasushi Oya

Proximal muscle weakness

Muscle weakness

Muscle Atrophy

Congenital myasthenic syndrome

10.1016/j.braindev.2018.12.002

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Citations (10)

Examining longitudinal functional changes in Dysferlinopathy: The JAIN Clinical Outcome Study (P5.429)

Neurology (2018)

Linda Lowes Meredith E. James Anna Mayhew Lindsay N. Alfano Marni Jacobs

April 26, 2018April 10, 2018Free AccessExamining longitudinal functional changes in Dysferlinopathy: The JAIN Clinical Outcome Study (P5.429)Linda Lowes, Meredith James, Anna Mayhew, Lindsay Alfano, Marni Jacobs, Simone Spuler, Kristi J. Jones, … Show All … , John Day, Diana Bharucha-Goebel, Emmanuelle Campana-Salort, Alan Pestronk, Maggie Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jordi Diaz Manera, Tina Duong, Kristy Rose, Jerry Mendell, Kate Bushby, and Volker Straub Show FewerAuthors Info & AffiliationsApril 10, 2018 issue90 (15_supplement) Letters to the Editor

10.1212/wnl.90.15_supplement.p5.429

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G.P.259

Neuromuscular Disorders (2014)

Madoka Mori‐Yoshimura Yukiko Hayashi Naohiro Yonemoto Miho Murata Shin’ichi Takeda

Congenital myopathy

Medical record

Patient registry

Medical History

Natural history study

Disease registry