UCL Queen Square Institute of Neurology


Duchenne 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)

Duchenne muscular dystrophy: information from Patient UK website

Facioscapulohumeral muscular dystrophy: information from Patient UK website

Muscular dystrophy: information from the NHS website

Muscular Dystrophy: factsheet from NINDS, the National Institute of Neurological Disorders and Stroke (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 DFSG is a national charity run by families for families affected by DMD. It provides a positive national support network of parents, their families and professionals.

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

Muscle Help Foundation
National charity that offers support for people affected by MD.

Action Duchenne
National support group that funds research into potential treatments and one day a cure, they also provide information and are involved in campaigning and advocacy, holding events to raise awareness.

Myotonic Dystrophy Support Group
This registered charity, run by volunteers and dedicated to offering friendship and support to all those affected by MD, has a central helpline and a network of regional contacts throughout the United Kingdom, as well as extensive links abroad. They are supported by professional specialist advisers, including in the fields of genetics, neurology, anaesthetics, research and rehabilitation.

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.

Healthtalk: nerves and brain
Personal experiences of people living with various neurological conditions.

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.