Mitochondrial Myopathies

Written by Joanna Poulton, Reader and Honorary Consultant in Mitochondrial Genetics, Nuffield Dept Obstetrics and Gynaecology, The Womens Centre, John Radcliffe Hospital, OxfordProf.L.Bindoff,Dept.Neurology,Hauleland,Sykehus,Bergen,Norway What are mitochondrial myopathies? Mitochondrial myopathy is a collective term for a group of diseases that particularly affect muscle, but which may also affect every other part of the body including the …

The Myotonias

Written by Professor Alan E.H.Emery for the Muscular Dystrophy Campaign What is Myotonia? Myotonia refers to the condition in which muscles are slow to relax after contracting. It occurs in a number of diseases such as myotonic dystrophy, myotonia congenita and paramyotonia congenita. However myotonic dystrophy is a very distinct condition in which myotonia is …

Myasthenia Gravis

Written by Camilla Buckley, Clinical Fellow & Angela Vincent, Professor of Neuroimmunology, Institute of Molecular Medicine, Department of Clinical Neurology, Oxford What is Myasthenia Gravis? Myasthenia Gravis (MG) is a chronic, autoimmune disease that causes muscle weakness and excessive muscle fatigue. It is uncommon, affecting about 15 in every 100,000 individuals in the UK. The …

McArdle’s disease

Written by Dr Ros Quinlivan, Consultant Paediatrician, for the Muscular Dystrophy Campaign What is McArdle’s disease? McArdle’s disease is a metabolic muscle disorder first described in 1951 by Dr Brian McArdle. The disorder is also called Glycogen Storage Disease Type V (GSD V). People born with McArdle’s disease are unable to produce an enzyme called …

Metabolic disorders that cause pain and/or weakness on exercise

Almost everybody experiences some muscle pain when they exercise more than usual or drive themselves to the limit in training, or suffer an actual ‘sports injury’. However some people consistently develop muscle pain with ‘ordinary’ exercise and they may be found to have a ‘metabolic disorder’ of the muscles. If you have been found to …

Congenital Myopathies: Minicore (multicore) myopathy

What is a myopathy? The term myopathy is derived from the Greek language and it means muscle disorder.The congenital myopathies are a group of conditions affecting proximal muscles and causing muscle weakness and wasting. Sometimes symptoms are present at birth but at other times they are not recognised until later on in childhood or adult …

The limb-girdle muscular dystrophies

Written by Prof. K.M.D.Bushby MD FRCP, Professor of Neuromuscular Genetics, University of Newcastle upon Tyne This fact sheet is for people for whom a diagnosis of limb-girdle muscular dystrophy (LGMD) has been suggested. This is a complicated subject since there are many different types of limb-girdle muscular dystrophy. Not all of the things that we …

Manifesting carriers of Duchenne md

Dr Kate Bushby is a clinician and researcher based at our Newcastle Muscle Centre (Department of Human Genetics at the University of Newcastle upon Tyne). Heidi Short: “I started falling over when I was about 12. I went to different doctors but as there was no family history of the disorder, they thought it was …

Juvenile Dermatomyositis

What is Juvenile dermatomyositis? Juvenile (childhood onset) dermatomyositis is a condition, which affects a number of systems of the body, although its main effects are seen in the muscles and skin. The underlying process is an inflammation of small blood vessels (vasculitis) which is thought to result from the presence in the blood of circulating …

Inclusion Body Myositis

Written by Dr S Hammans (Consultant Neurologist) Wessex Neurological Centre, Southampton for the Muscular Dystrophy Campaign. What is inclusion body myositis? Inclusion body myositis (IBM) is a disease of muscle, which causes muscles to become thin and weak. It was recognised as a disease in its own right in the 1960’s. It usually occurs in …