A positive Gowers' sign reflects lower limb dominance of weakness such as the child helps himself to get up with upper limbs: first by rising to stand on his arms and knees, and then "walking" his hands up his legs to stand upright.
- Lethal XLR disorder and one of the muscular dystrophies
- These are a group of diseases that cause
progressive weakness and loss of muscle mass
- X-linked recessive disorder
- Female carriers of the DMD gene may experience muscle fatigue and are at risk of cardiomyopathy,
- Boys aged 3-6 develop progressive weakness of the limb-girdle muscles.
- Most muscular tissues, including cardiac tissues, are involved.
- Progressive difficulty walking and calf pseudohypertrophy
- They are typically wheelchair-bound by early adolescence
- Death by age 30, from cardiomyopathy or respiratory failure.
- Paralysed from the neck down by age 30
- Contractures, scoliosis, intellectual impairment and reduced night vision.
- Other forms of Muscular dystrophy
- Cerebral palsy
- CK-MM level high
- Genetic studies to detect an exon deletion or duplication in the dystrophin gene in two thirds
- Muscle biopsy and EMG
- ECG, CXR and Echocardiogram for cardiomyopathy
- Supportive, steroids may help.
- Genetic consultation: Male offspring will be unaffected but all female infants of affected males will be carriers.
- Exercise e.g. swimming can help
- Good OT/PT - wheelchair and home modifications
- Respiratory support as needed