Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.

Autor: Nakamura A; Department of Neurology, NHO Matsumoto Medical Center, Matsumoto, Japan., Matsumura T; Department of Neurology, NHO Osaka Toneyama Medical Center, Toyonaka, Japan., Ogata K; Department of Neurology, NHO Higashisaitama National Hospital, Hasuda, Japan., Mori-Yoshimura M; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan., Takeshita E; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan., Kimura K; Department of Laboratory Medicine/Cardiology, The Institute of Medical Science, The University of Tokyo, Minato-ku, Japan., Kawashima T; Department of Information Medicine, National Center of Neurology and Psychiatry, National Institute of Neuroscience, Kodaira, Japan., Tomo Y; Department of Clinical Data Science, Clinical Research & Education Promotion Division, National Center of Neurology and Psychiatry, Kodaira, Japan., Arahata H; Department of Neurology, Neuro-Muscular Center, NHO Omuta National Hospital, Omuta, Japan., Miyazaki D; Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan., Takeshima Y; Department of Pediatrics, Hyogo Medical University School of Medicine, Nishinomiya, Japan., Takahashi T; Department of Neurology, NHO Sendai-Nishitaga Hospital, Sendai, Japan., Ishigaki K; Department of Pediatrics, Tokyo Women's Medical University School of Medicine, Shinjuku-ku, Japan., Kuru S; Department of Neurology, NHO Suzuka National Hospital, Suzuka, Japan., Wakisaka A; Department of Pediatrics, NHO Iou National Hospital, Kanazawa, Japan., Awano H; Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, Yonago, Japan., Funato M; Department of Pediatric Neurology, NHO Nagara Medical Center, Nagara, Japan., Sato T; Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan., Saito Y; Department of Pediatrics, National Rehabilitation Center for Children with Disabilities, Itabashi, Japan., Takada H; Department of Neurology, NHO Aomori National Hospital, Aomori, Japan., Sugie K; Department of Neurology, Nara Medical University School of Medicine, Kashihara, Japan., Kobayashi M; Department of Neurology, NHO Akita National Hospital, Yurihonjo, Japan., Ozasa S; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan., Fujii T; Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Japan., Maegaki Y; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan., Oi H; Department of Clinical Data Science, Clinical Research & Education Promotion Division, National Center of Neurology and Psychiatry, Kodaira, Japan., Tachimori H; Department of Information Medicine, National Center of Neurology and Psychiatry, National Institute of Neuroscience, Kodaira, Japan.; Endowed Course of Health System Innovation, Keio University School of Medicine, Tokyo, Japan., Komaki H; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan.
Jazyk: angličtina
Zdroj: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Dec; Vol. 10 (12), pp. 2360-2372. Date of Electronic Publication: 2023 Oct 26.
DOI: 10.1002/acn3.51925
Abstrakt: Objective: Becker muscular dystrophy (BMD) is a milder variant of Duchenne muscular dystrophy (DMD), a lethal X-linked muscular disorder. Here, we aim to investigat the clinical involvement of skeletal, respiratory, cardiac, and central nervous systems in patients with BMD, as well as genotype-phenotype relationships.
Methods: This nationwide cohort study investigated the clinical manifestations and genotype-phenotype relationships in 225 patients with BMD having in-frame deletion from 22 medical centers. The primary outcome was to elucidate the association of genotype with skeletal muscle, respiratory, cardiac, and central nervous system disorders. Descriptive statistics were used to analyze the data.
Results: The average age of the subjects was 31.5 (range, 1-81) years. Initial symptoms of BMD were muscular (60%), followed by asymptomatic hypercreatine kinasemia (32.4%) and central nervous system disorders (5.3%). Gait disturbance was observed in 53.8% of patients and the average age at wheelchair introduction was 36.5 years. The ventilator introduction rate was 6.7% at an average age of 36.6 years. More than 30% of patients had an abnormal electrocardiogram and approximately 15% had heart failure symptoms. Cardiac function on echocardiography varied significantly among the patients. The frequencies of seizures and intellectual/developmental disability were 8.0% and 16.9%, respectively. Exon 45-47deletion (del) was the most common (22.6%), followed by exon 45-48del (13.1%). Patients with exon 45-49del patients demonstrated severe skeletal muscle damage. Patients with exon 45-47del and exon 45-55del patients did not require ventilator use.
Interpretation: The study provides important prognostic information for patients and clinicians to establish therapy plans and to implement preventative medicine.
(© 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)
Databáze: MEDLINE
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