Muscular Dystrophy

Muscular dystrophy is a group of inherited diseases in which muscle fibres gradually break down and are replaced by fat and scar tissue, causing increasing weakness. The main types are Duchenne and Becker, myotonic dystrophy, facioscapulohumeral, limb-girdle and congenital forms.

Types differ greatly in age of onset, speed and which muscles, including the heart and breathing muscles, are involved. None can be cured at present. Good multidisciplinary care clearly extends and improves life, and a few gene-specific medicines now exist for certain types.

Symptoms

• Difficulty rising from the floor, climbing stairs or running
• Frequent falls and a waddling walk
• Enlarged calves in Duchenne and Becker types
• Difficulty lifting the arms or whistling and closing the eyes in the facioscapulohumeral type
• Slow release of grip, cataracts and daytime sleepiness in myotonic dystrophy
• Curvature of the spine and tight joints
• Breathlessness, morning headaches or poor sleep from weak breathing muscles
• Palpitations or fainting from heart involvement

Causes and risk factors

Each type is caused by a fault in a gene needed for healthy muscle. In Duchenne and Becker it is the dystrophin gene on the X chromosome, so mainly boys are affected and mothers may be carriers. Myotonic and facioscapulohumeral dystrophy pass from an affected parent of either sex. Most limb-girdle forms need a faulty gene from both parents. New mutations are common, so there is often no family history. Nothing in pregnancy, vaccination or upbringing causes it.

How it is diagnosed

• Creatine kinase blood test: Very high levels point to muscle breakdown and are often the first clue.
• Genetic testing: Confirms the exact type and mutation. This is essential for prognosis, family planning and eligibility for mutation-specific medicines.
• Electromyography: Helps separate muscle disease from nerve disease when the picture is unclear.
• Muscle MRI or biopsy: Used when genetic tests do not give an answer.
• Heart and lung assessment: ECG, echocardiogram or cardiac MRI and breathing tests at diagnosis and then regularly.

Treatment options

• Corticosteroids: Prednisolone, deflazacort or vamorolone slow loss of strength in Duchenne and are standard care.
• Physiotherapy, stretching and orthoses: Maintain range of movement and delay contractures. Night splints, standing frames and later wheelchairs are part of normal care.
• Cardiac protection: ACE inhibitors, beta blockers and sometimes pacemakers or defibrillators, particularly in Duchenne, Becker and myotonic types.
• Respiratory support: Cough assistance and night-time non-invasive ventilation when breathing muscles weaken.
• Orthopaedic surgery: Tendon release or spinal fusion for scoliosis in selected patients.
• Mutation-specific and gene therapies: Exon-skipping drugs, givinostat and a gene transfer product are licensed in some countries for certain Duchenne patients. Benefit so far is modest and availability is limited.
• Stem cell offers: Commercial stem cell injections have no proven benefit in muscular dystrophy and are not recommended.

When it is urgent

Choking, a chest infection with laboured breathing, new confusion or drowsiness, fainting or a fast irregular heartbeat need emergency care nearby. Tell any anaesthetist about the diagnosis, as some anaesthetic drugs are dangerous in muscular dystrophy.

Travelling to Türkiye for treatment

This is lifelong care that must sit with a neuromuscular team near home. A visit can reasonably provide genetic confirmation, a full heart, lung and spine review in one week, a second opinion, or a planned operation such as scoliosis correction. Be very cautious about travelling for stem cell or other unlicensed treatments sold as cures. Ask what published evidence exists for your exact type before you commit money or hope.

Send your reports, scans and a short history and a Clinic-Y coordinator replies within 24 hours with suitable teams and written, all-inclusive proposals side by side. Reviewing your case is free.

Frequently Asked Questions