yogabook / pathologie / progressive duchenne muscular dystrophy
Contents
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:
- Shoulder belt shape (the far less heavy Becker type)
- Pelvic girdle shape (the actual Duchenne type)
ICD G71
Cause
- genetic
Diagnosis
- CK increased a hundredfold
- Electroneurography, electromyography
- Muscle biopsy
- Trendelenburg sign (waddling gait)
- Gowers maneuver (climbing up on yourself from a prone position)
- MRI, Sono
- Genetic diagnostics
- Creatinuria, but reduced creatinine
- Tests and signs: Trendelenburg sign, Gowers maneuver (climbing up on yourself from a prone position)
Symptoms
- 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:
- 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
- various
Therapy
- KG, also for the prevention of joint contractures, delayed
- Economic training with light to moderate loads
- Creatine with regular therapy breaks
- Cortisone prolongs the ability to walk
- Occupational therapy
- Corset for trunk stabilization
- Wheelchair
- Care
- Orthoses, surgical stiffening of sections of the spine
- Psychological support, also from relatives
- Life expectancy depends on the condition of the heart and lungs; mechanical ventilation is usually necessary at the age of 18-20
- Ventilation, usually first through a nose-mouth mask
- Oxygen administration and vitamin infusions to combat fatigue
- possibly pacemaker
- Life expectancy, depending on form and therapeutic effort 15 – 40 years
- 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
- High protein, low carbohydrate and low fat diet
- Becker type: heart transplantation if necessary