UCL Queen Square Institute of Neurology


Muscular Dystrophy

Medline NLM definition for Muscular Dystrophy: a group of genetic degenerative myopathies characterized by weakness and muscle atrophy without nervous system involvement. The three main types are pseudohypertrophic (Duchenne, Becker), limb-girdle, and facioscapulohumeral.

Medline NLM definition for Myotonic Dystrophy: An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy. Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur. Congenital myotonic dystrophy is a severe form of this disorder, characterized by neonatal MUSCLE HYPOTONIA, feeding difficulties, respiratory muscle weakness, and an increased incidence of MENTAL RETARDATION. (From Adams et al., Principles of Neurology, 6th ed, pp1423-5; Joynt, Clinical Neurology, 1997, Ch16, pp16-7).

Muscular dystropy: information from the NHS website

Duchenne muscular dystrophy: information from Patient UK website

Facioscapulohumeral muscular dystrophy: information from Patient UK website

Muscular Dystrophy: factsheet from NINDS, the National Institute of Neurological Disorders and Stroke information (US site)

Duchenne Muscular Dystrophy: information from NORD, the National Organization for Rare Disorders (US site)

PubMed Medline search on Muscular Dystrophy

Support Groups

Muscular Dystrophy UK
Previously known as the Muscular Dystrophy Campaign, the Muscular Dystrophy UK website contains information about neuromuscular conditions, current research and disability issues. It gives advice and information for people with MD and has access to links, news and latest research and well as fundraising activities.

Duchenne family Support Group
"The Duchenne Family Support Group (DFSG) is a totally voluntary charity, run solely by families affected by Duchenne Muscular Dystrophy (DMD) for the purpose of providing support for other families affected, by sharing their own experiences and being able to listen and really understand the heartache and fears that every parent will face as their child's life becomes increasingly harder."

FSH-MD Support Group ( Facioscapulohumeral muscular dystrophy)
Aims to improve the quality of life for all those with FSH and those who care for them. Offers support and encouragement to families and individuals who have FSH-MD.

Brain and Spine Foundation
Information on living with a neurological condition and on diagnosis. There are publications and resources. The useful glossary of neurological conditions (under 'Information and support') includes links to some other organisations as well as to Brain and Spine Foundation information.

Neurological Alliance
Collective voice for 80 organisations, including stroke and brain injury. Organisations are listed at https://www.neural.org.uk/our-members/, a good place to start if looking for information on those conditions. Site also includes information about living with a neurological condition, a glossary, and information about onset and diagnosis as well as a small set of real life stories.

NHS Inform: brain, nerves and spinal cord 
NHS inform is Scotland's national health information service, with the aim of providing the people in Scotland with accurate and relevant information to help them make informed decisions about their own health and the health of the people they care for.

Muscular Dystrophy Association