Everything You Need To Know About Muscular Dystrophy
Our charity partners at The Muscle Help Foundation demystify this degenerative muscle-wasting condition which affects over 70,000 people in the UK alone
Michael McGrath, the founder and CEO of The Muscle Help Foundation, gets frustrated by muscular dystrophy everyday.
Diagnosed with limb-girdle muscular dystrophy aged just 18, he’s lived with the genetic condition weighing heavily on his body and mind for over 30 years. Yet a lack of understanding and awareness around muscular dystrophy (MD) among the public is equally deflating.
“Part of the mission is to put a spotlight on muscular dystrophy,” says 51-year-old McGrath, of the partnership with Upbeat Active and the launch of the #657challenge to put muscle health on the public agenda.
Part of the mission is to put a spotlight on muscular dystrophy.
“If we can engage the nation’s appetite to learn about muscles and what they enable them to do, and then help them make the connection with people whose muscles don’t work properly, that would be pretty cool.”
Here McGrath outlines the causes, symptoms, statistics and consequences behind muscular dystrophy and allied neuromuscular conditions.
Causes
- Abnormal genes known as mutations interfere with the production of proteins needed to form healthy muscle.
- Muscles waste due to the death of muscle cells and tissue, which are then replaced by fat and connective tissue.
- Most conditions are inherited but the gene is recessive so it can remain dormant in carriers, meaning they’ll show no symptoms, as is the case with McGrath’s mother. McGrath and one of his older brothers have the same LGMD condition while his eldest brother remains unaffected.
- Because the condition is inherited it can place a huge pressure on all members of the family. Parents have to cope not only with an affected child, but also with guilt for other siblings.
- Muscle-wasting conditions are very rare affecting just over one in every 1,000 people.
- They strike irrespective of age, gender or ethnic background.
- Children and adults with progressively weakening muscles find their lives irrevocably changed and their life span shortened.
Further reading: Michael McGrath: A Man On A Mission
Symptoms
- Symptoms of the most common variety begin in childhood, primarily in boys — other types don’t surface until adulthood but some are so severely affected from birth that they don’t have long to live.
- The muscle weakness often begins in the legs, but the disease eventually progresses to muscles in other parts of the body, resulting in serious complications, including difficulty breathing.
- Complications associated with MD include chest infections, pneumonia and heart abnormalities.
- Some people who have MD will eventually lose the ability to walk — some may have trouble breathing or swallowing.
- Some will struggle to turn the pages of a book.
- Some find it difficult to smile due to damaged facial muscles.
- Some will die because their lungs can no longer function.
- Some will die because their heart can no longer beat.
- Many parents will outlive their children.
Diagnosis
- Doctors will start by taking a thorough personal and family history, including symptoms, such as muscle weakness.
- Completing a physical and neurological examination.
- A biopsy which involves taking a small sample of muscle tissue to examine under a microscope to look for changes that are typical of MD.
- A blood test called a creatine phosphokinase (CPK) is the most specific test for muscular dystrophy. Elevated CPK levels in the blood is indicative of muscle disease. Early in the disease process CPK levels are 50–300 times greater than normal levels, but the levels tend to decrease as the muscle mass decreases.
- Other tests may include an electromyography (EMG) which tests the electrical activity of muscles.
- Nerve conduction tests may also be ordered to measure the ability of nerves to send electrical signals (used to rule out other conditions).
Types of MD
- There are more than 60 types of muscular dystrophy and over 70,000 people living with muscle-wasting conditions in the UK alone.
- Duchenne muscular dystrophy (DMD) is the most common and virulent form of MD in children.
- Approximately 95% of The Muscle Help Foundation’s beneficiaries are boys and young adults with DMD.
- DMD is genetically inherited from mother to son. Increasingly, it’s appearing out of the blue with no prior history of the condition in the family, possibly because the gene involved may be subject to sudden abnormal change or spontaneous mutation.
- Although girls can be carriers and mildly affected, the disease typically affects boys.
- DMD is caused by a defect in a crucial protein in muscle fibres called dystrophin. It acts like the rods in reinforced concrete; when it’s deficient, the muscles become weak and start to waste away.
- DMD will put a child in a wheelchair by the average age of 11yrs and limit his life to his mid-20s.
- Signs and symptoms of DMD typically appear between the ages of two and three and may include frequent falls, difficulty getting up from a lying or sitting position, trouble running and jumping, a waddling gait, walking on the toes, large calf muscles, muscle pain and stiffness, learning disabilities.
Becker muscular dystrophy (BMD) has similar symptoms to those of DMD but they are typically milder and progress more slowly. Symptoms generally begin in the teens but may not occur until the mid-20s or later.
Myotonic muscular dystrophy — also known as Steinert’s disease and characterised by an inability to relax muscles at will following contractions. It’s the most common form of adult-onset MD with facial and neck muscles usually the first to be affected.
Facioscapulohumeral (FSHD) — typically begins in the face and shoulders. Onset usually occurs in the teenage years but may begin in childhood or as late as age 40yrs.
Congenital muscular dystrophy affects boys and girls and is apparent at birth or before 2. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment.
Limb-girdle MD usually first affects the hip and shoulder muscles and people with this type may have difficulty lifting the front part of the foot so may trip frequently. Michael McGrath has limb-girdle muscular dystrophy 2A, also known as calpainopathy. An autosomal recessive form of LGMD, it’s one of the most common forms of LGMD. It’s caused by mutations in the calpain 3 gene, which gives instructions to produce a protein important to the muscle fibres.
Treatment
- At present there is no cure for MD.
- Treatment plans are geared toward managing symptom complications so children and adults with MD can live as long, full & active lives as possible.
- Improved medications including steroid (prednisone) interventions, more robust physiotherapy strategies (including hydro-therapy) and life-saving equipment such as cough assist machines (night time ventilators) and better therapies can and do help manage symptoms and by default slow the deterioration.
- Clinical trials for the treatment of MD using human volunteers are ongoing. For those in the US you can find information on the trials at clinicaltrials.gov.
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