Muscular Dystrophies (MD) are a group of genetic conditions that cause progressive weakness and loss of muscle mass. There are also other types of MD that do not appear until adulthood. Care and advice for patients is often through a multidisciplinary team, including a muscular dystrophy specialist such as Prof Hanna.
What causes Muscular Dystrophy?
MD is caused by mutations in genes that are responsible for both the structure and function of muscles. These mutations cause changes in muscle fibres, interfering with their ability to function. Over time this will cause increasing levels of disability.
The mutations can be inherited from parents. Where appropriate genetic testing is possible in order to evaluate your risk of developing MD or passing it onto your own children.
Types of Muscular Dystrophy
There are many different types of muscular dystrophy, each with differing symptoms. Some do not cause severe disability or affect life expectancy.
The more common types of MD include:
Duchenne MD – one of the most common and severe, this can be carried by girls but mainly affects boys during early childhood. People with this condition commonly only live into their 20s or 30s. Symptoms can include:
- Frequent falling
- Difficulty getting up from sitting or lying
- Problems running and jumping
- Walking on tip toes
- A waddling gait
- Large calf muscles
- Muscle pain and/or stiffness
- Learning difficulties
- Delayed growth
Becker MD – this form of muscular dystrophy has similar symptoms and signs to Duchenne MD, but they are milder and progress more slowly. Symptoms generally begin in the teen years, but can start as late as the mid 20s.
Myotonic dystrophy – this type of muscular dystrophy can develop at any age and is characterised by an inability to relax muscles, followed by contractions. Face and neck muscles are usually the first to be affected. Life expectancy is not commonly affected, but those with a severe form of myotonic dystrophy may have shorter lives.
Facioscapulohumeral (FSHD) – this type of muscular dystrophy typically begins with muscle weakness in the face, shoulders and hip. It can develop in childhood or adulthood and progresses slowly. It is not usually life-threatening.
Limb-Girdle – This type of muscular dystrophy usually affects the hip and shoulder muscles first. People with this condition may have difficulty lifting the front part of the foot and therefore trip frequently. Symptoms usually present during late childhood or early adulthood.
Oculopharyngeal – This type of muscular dystrophy does not usually develop until a person is 50-60 years old. Typically it does not affect life expectancy.
Emery-Dreifuss MD – This is a rare type of slowly progressive muscular dystrophy that affects the muscles of the arms, legs, face, neck, spine and heart. It develops in childhood or early adulthood and most people with the condition will live until at least middle age.
Appointments and more information
Professor Hanna is an internationally recognised expert in muscle wasting neurological conditions and has published over 400 research papers on neurological subjects including neuromuscular diseases, muscular dystrophy, mitochondrial diseases, channelopathies, inclusion body myositis, myasthenia gravis and motor neurone disease.
If you are concerned about your symptoms, or would like to arrange an appointment to discuss your muscular dystrophy diagnosis and treatment, please contact Prof Hanna office. Appointments can be arranged via the NHS or privately.
A letter of referral is required from your GP or NHS Practitioner. Referrals should be sent to my NHS Office.
NHS Office Address: Centre for Neuromuscular Diseases The National Hospital for Neurology and Neurosurgery Queen Square London WC1N 3BG NHS Office Enquiries Tel: 020 3448 8014/8251 Fax: 020 3448 3633
A letter of referral may be required for private patients who have Private Medical Insurance (PMI). Self-paying patients can self-refer.
Private Office Address: The Private Consulting Rooms The National Hospital for Neurology and Neurosurgery Queen Square London WC1N 3BG Private Office Appointments and Enquiries Tel: 020 3448 8935 Fax: 020 3448 8816
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