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Inheritance and the muscular dystrophies

This document provides a brief summary of the genetics of the muscular dystrophies. An understanding of their inheritance patterns makes it possible for families to know what the risk is of the dystrophy happening again. If, after reading this, you feel that any member of your family may be an unrecognised carrier of muscular dystrophy, …

Nemaline Myopathy

Written by Dr.Paola Nicolaides, Consultant Paediatric Neurologist, for the Muscular Dystrophy Campaign What is a myopathy? The term myopathy is derived from the Greek language and it means muscle disorder. What is a congenital myopathy? The congenital myopathies are a group of conditions causing muscle weakness and wasting. Sometimes symptoms are present at birth but …

Periodic Paralyses

Written by Dr Michael G Hanna, Consultant Neurologist, Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, UCLH NHS Trust,Queen Square, London. The ability we have to control and move the muscles in our body depends upon the passage of electrical signals along the nerves and into our muscles. The periodic paralyses are conditions …

Ocular Myopathies

Written by Dr D.Hilton-Jones, Consultant Neurologist, Oxford for the Muscular Dystrophy Campaign It has been recognised for many years that some patients with muscle disease have particular problems with the muscles around the eyes, although other parts of the body can also be involved. Whilst research is continuing, it appears that most of these patients …

Myopathy

Written by Professor KND Bushby, Professor of Neuromuscular Genetics, The University of Newcastle upon Tyne, for the Muscular Dystrophy Campaign A fact sheet for parents whose child has had a muscle biopsy that confirms a myopathy. Adults may also find it helpful. What is a myopathy We look at the muscle biopsy under the microscope …

Polymyositis, dermatomyositis and sarcoid myopathy

Written by Dr Bryan Lecky MA MD FRCP for the Muscular Dystrophy Campaign What are polymyositis and dermatomyositis? They are a group of conditions in which there is inflammation of the muscles. Resulting disability is very variable: sometimes weakness is mild but at the other extreme there may be major disability. Generally speaking, polymyositis (PM) …

Myotonic dystrophy

Written by Professor Peter S Harper, University of Wales College of Medicine, Cardiff for the Muscular Dystrophy Campaign What is myotonic dystrophy? People with myotonic dystrophy, like those with other dystrophies, experience muscle weakness and wasting which is usually progressive. There are many differences, though, in the type of problem that people with myotonic dystrophy …

Congenital Myopathies: Myotubular (centronuclear) myopathy

Written by Dr.Paola Nicolaides, Consultant Paediatric Neurologist, for the Muscular Dystrophy Campaign What is myopathy? The term myopathy is derived from the Greek language and it means muscle disorder. What is a congenital myopathy? The congenital myopathies are a group of conditions affecting proximal muscles and causing muscle weakness and wasting. Sometimes symptoms are present …

Myositis Ossifcans Progressiva

Written by Professor J M Connor MD, FRCP for the Muscular Dystrophy Campaign. Myositis ossificans progressiva, also known as Fibrodysplasia ossificans progressiva or FOP, is a disabling condition which is caused by the formation of bony bars within the muscles of the body. This bone formation is usually first noticed in early childhood as a …