Muscular Dystrophy (MD) is a progressive degeneration of muscle membrane due to lack of a protein called dystrophin. This lack of dystrophin makes the muscle fibres more prone to damage. The damaged muscle fibres are replaced with fat and connective tissue which makes the muscle weak. Duchenne MD is one of the more than 20 types of muscular dystrophy. All musclular dystrophies are caused by faults in genes. The Duchenne type affects only boys (1 in 3,500-5000 live male births)

Diagnosis: Diagnosis can be give through blood test by checking the Serum Creatine Kinase levels, through genetic tests, muscle biopsy and clinical examination.

Clinical presentation: A child with Duchenne MD presents with delay in developmental milestones, delay walking (not walking before 18 months), unexplained gait disturbance (such as walking on toes) and unexplained mental retardation/ language delay. They are unable to run properly, they might trip and fall often and they have difficulty with stairs. Positive Gower’s sign.The sign describes a patient that has to use their hands and arms to "walk" up their own body from a squatting position due to lack of hip and thigh muscle strength.

Treatment: A great deal can be done to help limit the effects of the muscular dystrophy and this includes treatments which are now definitely known to help some of the problems which may be life threatening, but no treatment is known which affects the actual loss of muscle cells.

How physiotherapy can help?

Early management can help the child to:

• Maintain function as long as possible. Your physiotherapists will monitor the muscle flexibility and strength.
• Maintain upright posture
• Minimise the possibility of joint contractures (stiff joints) and spinal deformities such as scoliosis
• Educate and give appropriate advice to families, carers and schools about the benefit of daily stretches and prepare for changing needs at home and school.
• Provide special orthotics such as night splints
• Provide special equipment such as standing frame, walking aids such as wheelchair, leg braces or crutches.
• Encourage children to participate in activities such as swimming and cycling
• Assist with management of respiratory problems

Steroid Treatment In people with Duchenne MD, has been shown to improve muscle strength and function for 6 months to 2 years, and slow down the process of muscle weakening. Steroid medication for Duchenne MD is available in tablet or liquid form, and current research suggests a daily dose is most effective. However, long-term use of steroids is associated with significant side effects such as weight gain and excessive hair growth.

Creatine supplements Recent research has also shown that a creatine supplement can improve muscle strength in some people with MD, while causing few side effects. Creatine is a substance normally found in the body that helps supply energy to muscle and nerve cells. It's often available as a supplement from pharmacies and health food stores. If you have MD and decide to take creatine supplements, make sure you mention this to your doctors (GP and specialist).