Facioscapulohumeral Muscular Dystrophy
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Last Posted: Mar 20, 2023
- Smartphone and Wearable Sensors for the Estimation of Facioscapulohumeral Muscular Dystrophy Disease Severity: Cross-sectional Study.
Ahnjili Zhuparris et al. JMIR formative research 2023 7e41178 - Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach.
Di Feo Maria Francesca et al. Health science reports 2022 5(3) e614 - Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials.
Ghasemi Mehdi et al. Cells 2022 11(4) - Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based study.
Wang Zhiqiang et al. The Lancet regional health. Western Pacific 2022 18100323 - The socioeconomic burden of facioscapulohumeral muscular dystrophy.
Blokhuis Anna M et al. Journal of neurology 2021 - Case Studies on the Genetic and Clinical Diagnosis of Facioscapulohumeral Muscular Dystrophy.
Hamel Johanna et al. Neurologic clinics 2020 38(3) 529-540 - The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy.
Himeda Charis L et al. Annual review of genomics and human genetics 2019 20265-291 - Facioscapulohumeral Muscular Dystrophy—a Tale of Heterogeneity and the Power of Clinical Assessments
K Nguyen, JAMA Network Open, May 1, 2020 - Living with Muscular Dystrophy
CDC, 2019 - The French National Registry of patients with Facioscapulohumeral muscular dystrophy.
Guien Céline et al. Orphanet journal of rare diseases 2018 13(1) 218 - Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Zampatti Stefania et al. Neurogenetics 2019 Mar - Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
Tawil Rabi et al. Neurology 2015 Jul 28. 85(4) 357-64 - Facioscapulohumeral muscular dystrophy
From NCATS Genetic and Rare Diseases Information Center
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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