Duchenne muscular dystrophy: Treatment, symptoms, advice and help

About duchenne muscular dystrophy

Duchenne muscular dystrophy is a genetic disorder characterised by progressive weakening of the muscles, especially that of the lower limbs. This is a serious disease which may result in life-threatening complications.

Duchenne muscular dystrophy: 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.

Signs and symptoms of duchenne muscular dystrophy: 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 of duchenne muscular dystrophy

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.

Duchenne muscular dystrophy: 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.

Duchenne muscular dystrophy: Treatment

Cerebral palsy is a lifelong disease which has no cure. The treatment modalities include physical therapy, orthotic treatment and supportive care. Orthotic devices, walkers or wheelchairs may be needed in some children who are unable to walk. Affected children require special schools for learning since they may have learning disabilities. The physical therapy may help in delaying the progression of muscle weakness. The entire treatment plan is designed to improve the capability and overcome developmental shortcomings in affected children. The prognosis of this disorder is not very good since the individuals usually succumb to potentially life-threatening complications like pneumonia and respiratory failure in most of the instances. The life expectancy of most individuals is usually in the range of 20-30 years.