Duchenne Type Muscular Dystrophy: Therapy

Genetic counseling should be offered: Thus, information can be obtained about the carrier status of the mother and her potential sisters. The purpose of this measure is to raise awareness among parents, especially prenatally, that other children (sons) may be affected by Duchenne muscular dystrophy.

General measures

  • Nicotine restriction (abstaining from tobacco use) [due toharmfulness to lungs and heart].
  • Limited alcohol consumption (men: max. 25 g alcohol per day; women: max. 12 g alcohol per day) [due topotential increase in damage to myocytes (muscle fiber cell)]
  • Limited caffeine consumption (max 240 mg of caffeine per day; equivalent to 2 to 3 cups of coffee or 4 to 6 cups of green/black tea).
  • Aim for normal weight! [due tosecondary disease obesity] Determination of BMI (body mass index, body mass index) or body composition by means of electrical impedance analysis and, if necessary, participation in a medically supervised weight loss program.
  • Avoidance of psychosocial stress
  • Avoidance of environmental stress [due toprophylaxis of lung-related secondary diseases].

Conventional non-surgical therapy methods (in the future)

  • Correction of Duchenne muscular dystrophy using the Crispr-Cas9 gene scissors:Animal models using the CRPSR gene scissors have already shown promising success in correcting Duchenne muscular dystrophy-inducing grid-thrust mutations. In the future, these could also find use in humans, especially when applied to embryonic stem cells. Here, the procedure is similar to the use of the drug Eteplirsens. CRPSR is injected into the cell. The sgRNA (short-guide RNA) now binds to its complementary exon (section of a gene that contains the information needed to generate proteins), causing it to be excised by the Cas9 enzyme of the CRISPR-Cas complex. Depending on which exon is cut out, this can be used to ensure that a base sequence is present from the cleavage site, coding for the required amino acids of the dystrophin protein, despite the resulting partial shortening of the protein.

Vaccines

The following vaccinations are advised:

  • Flu vaccination
  • Pneumococcal vaccination

Medical aids

  • Orthotics (orthosis = medical device used for the limbs as well as the trunk; here: Knee orthoses)
  • Corset construction (due toScoliosis)
  • Children orthopedic technology – measures to facilitate gait.
  • Wheelchair for high disease progression

Physical therapy (including physiotherapy)

Psychotherapy

Training