Overview
Facioscapulohumeral muscular dystrophy (FSHD) is a disorder characterized by muscle weakness and wasting (atrophy). The disorder gets its name from muscles that are affected in the face (facio), around the shoulder blades (scapulo), and in the upper arms (humeral). Hamstring and trunk muscles are affected -early on but are less well recognized. Other arm and leg muscles are frequently eventually affected in the course of the disease. Symptoms usually appear before age 20, but can begin in infancy or later in adulthood. Severity of the condition varies widely and some people with the disease allele remain asymptomatic. FSHD is most typically characterized by relatively slow disease progression. Specific symptoms and findings may also vary in range and severity, including among affected members of the same family. Life expectancy is not shortened. FSHD is usually inherited as an autosomal dominant genetic condition’ – NORD National Organisation for Rare Disorders
FSHD is formally diagnosed through a blood test. Most clinical trials will request this as a formal confirmation of the condition. There are saliva tests available via a research study run by the Peter Jones and Takako Jones lab. Note: these are not currently formally recognised. To learn more: https://myfshd.org/test-for-fshd/
It was estimated by a European study in 2013 (taking a prevalence rate of 12/100,000 people with FSHD and the population at that time of c67.33 million in the UK) that there could be c.8000 FSHD patients in the UK. (Footnote 1). There could be more.
UK FSHD Patient Registry
The UK FSHD Patient Registry is a database of information that people with FSHD voluntarily share by answering questionnaires. The registry is owned and run by Newcastle University with Dr Chiara Marini-Bettolo as PI, holds ethical approval from NHS, and is funded by MDUK.
The registry allows patients to share information that helps us inform them if they may be eligible to participate in a clinical trial, natural history study, or other research opportunity. The data they share can also be used to facilitate medical, academic and scientific research to help the community learn more about FSHD. Data sharing is strictly governed by the registry steering committee, and the registry is fully GDPR compliant. No identifiable information is ever shared outside of the registry. To learn more, please visit the registry website: www.fshd-registry.org.uk and contact the Registry Manager if you have any questions about signing up.
Muscular Dystrophy Support Centre (MDSC)
MD Support Centre is an independent Midlands-based charity funded primarily through voluntary donations and grants. They are a unique multidisciplinary centre offering specialised physical therapies and support to people in the Midlands and beyond with neuromuscular, muscle wasting conditions to maintain independence and quality of life.
To learn more about MDSC click here.
Information on FSHD
Many other organisations have detailed literature on FSHD and also the steps to follow in terms of contacting your GP and requesting further guidance. Please click the images below for more information on FSHD.
“The FSHD Society is the world’s largest research-focused patient organization for FSHD“
– FSHD Society
“UK’s leading charity for over 60 muscle wasting and weakening conditions“
– MDUK
1. Population-based incidence and prevalence of facioscapulohumeral dystrophy:Johanna C.W. Deenen, Hisse Arnts, Silvère M. van der Maarel, et al.
Neurology 2014;83;1056-1059 Published Online before print August 13, 2014