en-Distrofia musculara Becker

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 BMD?

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

It is similar to Duchenne muscular dystrophy, having milder clinical manifestations than it.

Is Becker muscular dystrophy an acquired disease, or is it present from birth?

BMD is present from birth, although the symptoms are noticed much later.

How does BMD occur?

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

When do we consider that a child might have BMD?

Compared to DMD, the onset is late. The first clinical signs appear after age 5, or even in adolescence.

The first symptom at onset may be pain in the calves; they may also have enlarged calf muscles. Clinically, predominantly proximal muscle deficit is found, with the lower limbs being more affected than the upper limbs, and in terms of routine tests, CK/ALT/AST have elevated values on repeated measurements.

How is BMD 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 corticosteroid therapy, kinetotherapy, management of skeletal impairments, cardiac complications, respiratory complications, as well as psychological counseling.

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

• pneumococcal vaccine
• flu vaccine
• 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 BMD undergo?

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

Is DMD a progressive disease?

Yes.

What other problems might a child with DMD have?

• Cardiac involvement: rare
• Intellectual disability: rare
• Behavioral disorders
• Emotional disorders
• Respiratory involvement
• Hypofertility due to testicular atrophy
• Bone changes: osteoporosis

What is the prognosis for a child diagnosed with BMD?

Children diagnosed with BMD can remain ambulatory for a long time (over 16 years). Chronic respiratory failure secondary to diaphragm impairment and ineffective nocturnal ventilation can lead to heart failure. Cardiomyopathy has been described in 90% of patients, being the cause of death in 50% of cases.

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.