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Symptoms, diagnosis and causes of duchenne muscular dystrophy (dmd)

Symptoms, diagnosis and causes of duchenne muscular dystrophy (dmd)

Symptoms, diagnosis and causes of duchenne muscular dystrophy (dmd)

Symptoms, diagnosis and causes of duchenne muscular dystrophy (dmd)

Consultation and assessment

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Incidence, age and sex

Duchenne muscular dystrophy is one of the commonest and serious form of muscular dystrophy encountered in the general population. It mainly afflicts the boy child. Very rarely a female child may get afflicted with this muscular dystrophy. It is encountered in approximately 1 in every 40000 male infants.

Diagnosis

The signs and symptoms of duchenne muscular dystrophy are usually seen in early childhood and include difficulty in walking which deteriorates rapidly. It results from weakening of the muscles of the legs and may progress to the upper limbs and the neck, in some cases. The affected children may experience frequent falls and also find difficulty in doing physical activities like running and jumping. The patient may not be able to walk at all at 12-14 years of age due to intense muscle weakening. Learning disabilities may be seen in some patients and these may vary in severity.

Investigations like electromyography, muscular biopsy or raised levels of serum CPK enzyme may help in confirming the diagnosis. A detailed neurological examination by a specialist is mandatory which includes examining of muscle wasting or any muscular deformities. Other investigations like ECHO, ECG or CT scans of the chest may be required to look for any complications.

Causes and prevention

Duchenne muscular dystrophy is an X-linked genetic disorder. It results from the defective gene which is responsible for production of ‘dystrophin’, a protein whose function is to maintain muscular strength. Lack of dystrophin causes muscles to lose their integrity and strength and result in impairment of motor functions. Duchenne muscular dystrophy is usually transmitted from mother to son. The defective gene cannot be transferred from fathers to sons.

Complications

Complications like cardiomyopathy, arrhythmias or even heart failure may be seen in patients with duchenne muscular dystrophy. Lung disorders like pneumonia or respiratory failure may also be encountered.

Submit a request for further information, a quotation or indicative cost. Your enquiry will be forwarded to up to 3 private healthcare providers. They will respond directly with further information.

Get a quote for duchenne muscular dystrophy (DMD) treatment >

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