Distal Myopathies.
| Autor: | Felice KJ; The Charles H. Kaman Foundation Neuromuscular and Muscular Dystrophy Association Care Center, Hospital for Special Care, 2150 Corbin Avenue, New Britain, CT 06053, USA; University of Connecticut School of Medicine, Farmington, CT, USA. Electronic address: felicek@hfsc.org. |
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| Jazyk: | angličtina |
| Zdroj: | Neurologic clinics [Neurol Clin] 2020 Aug; Vol. 38 (3), pp. 637-659. Date of Electronic Publication: 2020 Jun 11. |
| DOI: | 10.1016/j.ncl.2020.03.007 |
| Abstrakt: | The distal myopathies are a rare and heterogeneous group of neuromuscular disorders. Patients present with weakness of the hands, distal lower extremities, or both. Age of onset varies from early childhood to late adulthood. Most of the disorders causing distal myopathic weakness are genetically based. The list of genetic disorders associated with distal-onset weakness is ever-expanding and complicated by pronounced genetic heterogeneity, phenotypic variability, and complex multisystem involvement. There are no known effective disease-modifying treatments for the distal myopathies. Evaluation, symptomatic management, and periodic monitoring of patients in a multidisciplinary neuromuscular center are the mainstays of care. Competing Interests: Disclosure Dr K.J. Felice has no relevant disclosures. (Copyright © 2020 Elsevier Inc. All rights reserved.) |
| Databáze: | MEDLINE |
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