Characteristics of myotonic dystrophy patients in the national registry of Japan.
J Neurol Sci
; 432: 120080, 2022 Jan 15.
Article
em En
| MEDLINE
| ID: mdl-34923335
ABSTRACT
Myotonic dystrophies (DM) are inherited autosomal dominant disorders affecting multiple organs. Currently available therapeutics for DM are limited; therefore, a patient registry is essential for therapeutic development and success of clinical trials targeting the diseases. We have developed a nationwide DM registry in Japan under the Registry of Muscular Dystrophy (Remudy). The registration process was patient-initiated; however, physicians certified the clinical information. The dataset includes all Naarden and TREAT-NMD core datasets and additional items covering major DM clinical features. As of March 2020, we enrolled 976 patients with genetically confirmed DM. The majority (99.9%) of these patients had DM1, with 11.4% having the congenital form. However, 1 patient had DM2. Upon classifying 969 symptomatic DM1 patients based on their age at onset, an earlier onset was associated with a longer CTG repeat length. Myotonia was the most frequent symptom, followed by hand disability, fatigue, and daytime sleepiness. The frequency of hand disabilities, constipation, and visual disturbances was higher for patients with congenital DM. According to a multiple regression analysis of objective clinical measurements related to prognosis and activities of daily living, CTG repeat length strongly influenced the grip strength, forced vital capacity, and QRS time in an electrocardiogram. However, the grip strength was only modestly related to disease duration. This report will shed light on the Japanese national DM registry, which has recruited a significant number of patients. The registry will provide invaluable data for planning clinical trials and improving the standard of care for patients.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofia Miotônica
Tipo de estudo:
Prognostic_studies
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Neurol Sci
Ano de publicação:
2022
Tipo de documento:
Article