yogabook / pathologie / progressive duchenne muscular dystrophy

progressive duchenne muscular dystrophy

Definition of

Group of diseases with loss of muscle mass (a disease of the musculature, not the innervation). Genetic: most common hereditary muscle disease in childhood; 1:5000, mostly X-linked recessive enzyme defect of the muscle cells, almost only boys affected. Muscle tissue is increasingly replaced by fat and connective tissue. There are 2 types:

1. Shoulder belt shape (the far less heavy Becker type)
2. Pelvic girdle shape (the actual Duchenne type)

ICD G71

Cause

1. genetic

Diagnosis

1. CK increased a hundredfold
2. Electroneurography, electromyography
3. Muscle biopsy
4. Trendelenburg sign (waddling gait)
5. Gowers maneuver (climbing up on yourself from a prone position)
6. MRI, Sono
7. Genetic diagnostics
8. Creatinuria, but reduced creatinine
9. Tests and signs: Trendelenburg sign, Gowers maneuver (climbing up on yourself from a prone position)

Symptoms

1. Shoulder girdle form, the less severe Becker type, begins at 20-30 years of age (although it is a hereditary disease), the symptoms begin slowly and are very discrete at first, progression is very slow, life expectancy is hardly reduced:
2. Pelvic girdle form, the more common form: X-linked recessive inheritance, sex-linked (boys get the disease, girls transmit it as conductors). The prognosis is considerably less favorable than for form 1, with symptoms already appearing in adolescence:

Complications

1. various

Therapy

1. KG, also for the prevention of joint contractures, delayed
2. Economic training with light to moderate loads
3. Creatine with regular therapy breaks
4. Cortisone prolongs the ability to walk
5. Occupational therapy
6. Corset for trunk stabilization
7. Wheelchair
8. Care
9. Orthoses, surgical stiffening of sections of the spine
10. Psychological support, also from relatives
11. Life expectancy depends on the condition of the heart and lungs; mechanical ventilation is usually necessary at the age of 18-20
12. Ventilation, usually first through a nose-mouth mask
13. Oxygen administration and vitamin infusions to combat fatigue
14. possibly pacemaker
15. Life expectancy, depending on form and therapeutic effort 15 – 40 years
16. With the help of the drug eteplirsen, at least a less functional variant can be produced instead of the non-synthesizable dystrophin, turning the severe course of Duchenne into the milder Becker type
17. High protein, low carbohydrate and low fat diet
18. Becker type: heart transplantation if necessary