en-Distrofia musculara Duchenne

This article was written by Dr. Aursulesei Ruxandra, pediatric neurologist specialist with extensive experience in diagnosing and treating neurological conditions. Pediatric neurology plays an important role in the periodic neurological evaluation of premature infants, as well as of all newborns at risk of developing neurological sequelae, with the goal of early detection and treatment of any impairment of the nervous system.

What is DMD?

DMD is a muscle disease characterized by progressive muscle weakness caused by defective synthesis of a protein, dystrophin.

Is DMD an acquired disease, or is it present from birth?

DMD is present from birth, although the symptoms may be observed much later.

How does DMD occur?

DMD results from a de novo mutation or from X-linked genetic transmission.

When do we consider that a child might have DMD?

A child may have DMD when they have a delay in walking, a waddling gait or walking on tiptoes; they may have enlarged calf muscles. There may be problems with running, jumping, or climbing stairs, they may fall easily, they may have a tendency to walk on their toes, they may have a speech delay, and in terms of blood tests, CK/ALT/AST have elevated values on repeated measurements.

How is DMD diagnosed?

A definitive diagnosis is made through genetic testing.

Centrokinetic is prepared for this specialization with a team of experienced doctors and the necessary equipment for diagnosis, monitoring and treatment. Find out more about pediatric neurology and book an appointment at Centrokinetic here.

Can it also be diagnosed prenatally?

Yes. It is done after 10 weeks of gestation through chorionic villus sampling or amniocentesis at weeks 15-18.

What treatment should be given in the case of a positive diagnosis?

There is no curative treatment. The recommended treatment in these cases is Translarna (only in certain cases), corticosteroid therapy, kinetotherapy, management of skeletal impairments, cardiac complications, respiratory complications, as well as psychological counseling and occupational therapy.

What prophylaxis should be done in the case of a positive diagnosis?

• pneumococcal vaccine (children aged 2 years and over 2 years);
• flu vaccine (annually);
• avoiding weight gain and supramaximal physical exertion;
• early corrective interventions to avoid deformities of the limbs and spine, and early bracing;
• early mobilization after corrective orthopedic interventions;
• use of assisted mechanical ventilation from the first signs of respiratory failure, initially at night, and in the later stages of the disease during the day as well;
• avoiding general anesthesia with halothane and succinylcholine to avoid the occurrence of malignant hyperthermia and dilated cardiomyopathy.

What evaluations should a child with DMD undergo?

• Pediatric neurology evaluation
• Cardiology evaluation
• Orthopedic evaluation
• Medical rehabilitation evaluation
• Pulmonology evaluation
• Pediatric evaluation

Centrokinetic is prepared for this specialization with a team of experienced doctors and the necessary equipment for diagnosis, monitoring and treatment. Find out more about pediatric neurology and book an appointment at Centrokinetic here.

Is DMD a progressive disease?

- Yes.

What other problems might a child with DMD have?

• Cardiac involvement
• Intellectual disability
• Behavioral disorders
• Emotional disorders
• Respiratory involvement
• Digestive disorders
• Visual impairment: Night blindness
• Bone changes: osteoporosis

If it's not DMD, what other disease could it be?

• Spinal muscular atrophy types II and III
• Polyneuropathies
• Congenital myasthenic syndromes
• Congenital myopathies
• Other muscular dystrophies

What is the prognosis for a child diagnosed with DMD?

Children become bedridden after age 12. Death occurs late, in adolescence, or at the beginning of the second decade of life.