Facioscapulohumeral muscular dystrophy
An internationally agreed core dataset was established in 2011 to set out the information that all registries should collect in order for their data to be comparable (see the links section on the left). As a result of this, a number of registries have been established with more being developed. If you are a patient (or parent/guardian of a patient) with FSHD and would like to register in a patient registry, you should do this via the registry in your country if one is available.
Patient Registries
Austrian NMD Registry
The German/Austrian Neuromuscular patient registry is located at the the Friedrich-Baur-Instiute, LMU Klinikum Munich, Germany. The investigator in charge is Prof. Maggie Walter (or Prof Benedikt Sch …
Belgian Neuromuscular Disease Registry (BNMDR) – Belgium
Le registre belge des maladies neuromusculaires (BNMDR) a été créé en 2008. Il est géré par Sciensano et collecte les données des 7 centres de référence pour les maladies neuromusculaires. Ses objecti …
Bulgarian Patient Registry for Neuromuscular Diseases
The Bulgarian patient registry is located at University Hospital Alexandrovska, Clinic of Neurology in Sofia. The investigator in charge is Prof. Dr. Ivailo Tournev. You can contact him at itournev@emhpf.org or tel.+359 2 9230670. Patients with DMD/BMD and SMA are able to get information on the registry and forms also online at the site of [...]
Chinese Genetic Disease Registry Center (CGDR)
The Chinese Genetic Disease Registry (CGDR) is a China-wide registry of people diagnosed with a genetic disease, especially for DMD/BMD and SMA. It collects important medical information from patients …
FSHD registry – Czech Republic
The Czech patient registry for Facioscapulohumeral Muscular Dystrophy is located at the Masaryk University in Brno, where it was developed by the Institute of Biostatistics and Analyses.
The Danish National Rehabilitation Centre for Neuromuscular Diseases
More information about the Danish registries can be obtained by contacting Ulla Werlauff from the National Danish Rehabilitation Centre for Neuromuscular Diseases.
Egyptian Neuromuscular Registry
The Egyptian NMD registry is now open for registrations from DMD/BMD, LGMD, GNE, DM, CMD and FSHD patients in Egypt. Registrations from SMA patients will be possible in the near future. We also welcom …
FSHD registry – France
Such Observatory is essential to clinical research, epidemiology and genetics is needed to promote the development of therapeutic trials. In recent years, the creation in France and in other countr …
German NMD Registry
The German/Austrian Neuromuscular patient registry is located at the the Friedrich-Baur-Instiute, LMU Klinikum Munich, Germany. The investigator in charge is Prof. Maggie Walter (or Prof Benedikt Sch …
Italian National Registry for Facioscapulohumeral Muscular Dystrophy
A National Italian Registry for Facioscapulohumeral Muscular Dystrophy (FSHD) Facio-scapulo-humeral muscular dystrophy (FSHD) is among the most common hereditary muscle diseases. It affects the muscul …
Remudy(REgistry of MUscular DYstrophy) – Japan
The Japanese DMD registry (Remudy; REgistry of MUscular Dystrophy) is located at the National center of Neurology and Psychiatry in Tokyo.
NMS Datu Kolekcija
The NMS Datu Kolekcija was created in 2014 and is based in Riga, Latvia. The registry captures information on any patients with DMD, DM, FSHD, LGMD, SMA and rare neuromuscular diseases. For further in …
Lebanese Neuromuscular Disease Registry
The Lebanese Neuromuscular Disease Registry is managed by L.A.N.D (Lebanese Association for Neuromuscular Diseases) a support group that will spread awareness and support patients and families affecte …
Telethon Registry of Neuromuscular Diseases (Mexico)
The Telethon Registry of Neuromuscular Diseases (Mexico) was created in 2022 and is located in Guerrero, Mexico. The registry captures information on patients with DMD, DM, FSHD, LGMD, SMA and rare ne …
FSHD Registry – The Netherlands
The Dutch FSHD registry was launched in March 2015 and is run by the dept. of Neurology, Radboud University Nijmegen Medical Centre in collaboration with the Dutch Association for FSHD and Spierziekte …
New Zealand Neuromuscular Disease Registry (Punaha Io Neurogenetic Research Bank)
The New Zealand Neurogenetic Registry & Biobank covers all neuromuscular disorders.
Polish Registry of Patients with Neuromuscular Diseases
The Polish Registry of Patients with Neuromuscular Diseases was created at the Department of Neurology, Medical University of Warsaw within the project ‘Clinical and genetic characteristics of neuromu …
Russian FSHD Patient Registry
The Russian FSHD Patient Registry was created in 2019 and is based in Moscow, Russia. The registry captures information on any patients with FSHD. For further information, please visit Russian FSHD Pa …
Registry of Slovenian Children with Neuromuscular Diseases
Register slovenskih otrok z živčno-mišičnimi obolenji Registry of Slovenian children with neuromuscular diseases
Neuromuskulära sjukdomar i Sverige (Neuromuscular Disorders in Sweden)
This registry is based on professional reporting system and now includes SMA, DM1, congenital myopathies, congenital muscular dystrophies, and LGMD. For further information, please contact Björn Lindv …
Turkish NMD Registry – KUKAS
This is a registry system regarding Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA), the most commonly encountered neuromuscular disorders during the childhood period; to ensure a …
Associacao Brasileira de Facio-Escapulo-Umeral (ABRAFEU) Registry
The Associacao Brasileira de Facio-Escapulo-Umeral (ABRAFEU) Registry was created in 2019 and is based in Sao Paulo, Brazil. The registry captures information on any patients with FSHD. For further in …
UK FSHD Patient Registry
The UK FSHD patient Registry is run from Newcastle University with support from the MDUK and in close collaboration with other clinical centres and patient representatives across the country.
USA National Registry for Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy
The National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular DystrophyThis registry, which is funded by the US National Institutes of Health and based at the University of Rochester, h …
Please note there is no benefit to you in registering in more than one registry.