Muscular Dystrophy (MD)
Muscular dystrophy is a collective term denoting a group of genetic disorders that results to the progressive degeneration of the skeletal muscles. Individuals affected with this disorder apparently lack information on their genes that prevents their body from making a protein (merosin) which is necessary for muscle contractions.
- Congenital Myotonic Dystrophy (CMD)
This type of muscular dystrophy is inherited through an autosomal dominant trait pattern. The disease begins in the utero and the newborn may have severe muscle weakness (myotonia) at birth. The degeneration of the muscle progresses until respiratory movement becomes very hard and difficult. Many of these infants die before 1 year of age because they cannot sustain respiratory function. In rare cases, congenital myotonic muscular dystrophy can cause learning and intellectual disabilities in affected children.
- Fascioscapulohumeral Muscular Dystrophy (FSMD)f
Fascioscapulohumeral muscular dystrophy is inherited as dominant trait, where the defect is carried in the chromosome 4. Symptoms are apparent during late school-age or adolescent period, about 10 years of age. It affects both sexes and this type of muscular dystrophy usually affects the muscles of the face and shoulder, giving its name. The predominant manifestation of FSMD is facial weakness making a child unable to whistle and wrinkle his or her forehead, close eyes tightly and raise arms. The progression of the disorder is slow, hence allowing a normal-life span.
- Pseudohypertrophic Muscular Dystrophy (Duchenne’s Muscular Dystrophy)
This is the most common form of muscular dystrophy and is inherited as a sex-linked recessive trait. Duchenne’s muscular dystrophy affects only boys where the symptoms usually become apparent by 3 years of age. A problem with the gene that makes a protein called dystrophin causes this type of MD. Without dystrophin muscles cannot keep their shpe and strength. At about 10-12 years of age children with this disease needs a wheelchair. Later on, respiratory muscles become weak necessitating the help of a ventilator to breathe. Affected individuals usually die in their late teens or early adulthood.
- Progressive muscular weakness
- Delayed meeting of motor milestones
- Waddling gait
- Walking on toes
- Frequent falls
- Gower’s sign (to stand, affected children press their hands against their ankles, knees and thighs)
- Hyperthrophied calf muscles
- Poor balance
- Scoliosis of the spine
- Fracture of long bones
- Inability to walk (late stages)
- Muscle biopsy
- History and physical findings
- Enzyme analysis (increased concentration of serum creatine phosphokinase)
There is no cure for muscular dystrophy. Treatments include physical and speech therapy, orthopedic devices, surgery and medications.
- Encourage to remain ambulatory for as long as possible.
- Active and passive daily ROM exercise program.
- Splinting and bracing ( to maintain lower extremity stability and avoid contractures)
- Low-calorie, high-protein diet to avoid excessive weight gain (ambulation becomes more difficult if the child is overweight)
- Increase fiber and fluids in diet (to prevent constipation.)
- Stool softeners if needed.
- Support groups for parents to assist them with coping (Muscular Dystrophy Association)
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