Muscular dystrophy

Also called Duchenne muscular dystrophy, DMD, Becker muscular dystrophy

Inherited conditions causing progressive muscle weakness. Steroids and heart and lung care have changed the outlook substantially.

What it is

Muscular dystrophy is a group of inherited conditions in which muscle fibres break down and are replaced by fat and scar tissue. Around 70,000 people in the UK have a muscle-wasting condition.

Duchenne is the commonest childhood form, affecting around 1 in 3,500 boys. It is caused by a faulty gene on the X chromosome, so it almost always affects boys, with girls as carriers who can have milder effects.

The outlook has changed markedly. Corticosteroids, proactive heart monitoring and non-invasive ventilation have moved life expectancy in Duchenne from the late teens into the twenties and thirties for many. Those gains came from anticipating problems rather than reacting to them, which is the theme of this whole entry.

Signs you might notice

In Duchenne, usually noticed between two and five: delayed walking, frequent falls, difficulty running and climbing stairs.

Gowers' sign: using the hands to walk up the legs when rising from the floor.

Enlarged calves that are firm rather than strong.

Later: loss of walking, scoliosis, reduced arm function.

Breathing and heart muscle both affected over time, and both need monitoring before symptoms appear.

Learning and attention differences are commoner in Duchenne than in the general population and often go unaddressed.

How it can affect day-to-day life

Anticipation is everything. Equipment, housing adaptations and school planning all have long lead times, and a wheelchair that arrives six months after it was needed represents six months of a childhood.

The heart is the part most often forgotten. Cardiomyopathy develops in essentially everyone with Duchenne, is silent early, and needs medication started before symptoms appear. Annual cardiac review is not optional.

Transition to adult services is where care most often falls apart, exactly as in cerebral palsy.

Carriers need cardiac screening too, which families are frequently not told.

Supporting someone well

Keep every cardiac and respiratory appointment, and ask for them if they are not offered. This is where the years are.

Get the steroid regime right and manage its side effects actively: bone protection, weight, blood pressure and mood.

Plan equipment and housing a year ahead of need, not at the point of need.

Watch the spine, and get scoliosis reviewed regularly.

Address learning and attention needs at school rather than attributing everything to the physical condition.

Ask about clinical trials and about newer treatments; this field is moving.

Fiducia Guardian holds the appointments, medicines, equipment and the whole team in one record, which in a condition with eight specialities involved is the difference between anticipating and reacting.

Where to get help

Care should come from a specialist neuromuscular centre with a multidisciplinary team.

Muscular Dystrophy UK run a free helpline on 0800 652 6352 and have advocates who help with equipment, housing and benefits disputes.

Ask for genetic counselling for the wider family.