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Muscular Dystrophy

Definition : The muscular dystrophies are an inherited group of progressive myopathic disorders
resulting from defects in a number of genes required for normal muscle function.
Aetiology :
The exact cause is not known.
Said to be due to alterations in the gene due to mutations .
Classifications :
X linked muscular dystrophy
Duchenes muscular dystrophy
Bekkers muscular dystrophy
Autosomal Recessive
Congenital Muscular dystrophy
Childhood Muscular dystrophy
Limb girdle muscular dystrophy
Autosomal Dominant Muscular dystrophy
Occular and oculopharyangeal

Duchenne Muscular dystrophy

X linked inherited muscular dystrophy.

Males commonly affected.
Condition is present from birth but the onset is between the age of two and three.

Defect in the gene present on the chromosome X
Deletion on the dystrophin gene.
Reduced dystrophin
Dystrophin is the protein present in the plasma membrane of the muscle fibre providing
mechanical reinforcement to the sarcolemma and stabilizes the glycoprotein complex.
Hence preventing from degradation.
Due to the absence of the dystrophin
The glycoprotein complex is digested by the proteases.
Degeneration of the muscle fibre
Muscle weakness.
Lack of protein called nebulin causes replacement of the muscles fibres by fat and CT.

Muscular Dystrophy
Clinical Features :
Muscle Weakness
Proximal first and then the distal muscles go for weakness.
Lower extremities are affected first.
Running jumping and walking up the stairs is difficult
Relex :
Hyporeflexia or areflexia.
Muscle length :
TA shortening
Waddling gait is seen ( B/L hip muscles weakness)
Lumbar lordosis
Later stages progressive scoliosis
Pseudocalf hypertrophy is seen. Also in the quadriceps
Gowers sign is seen.
Cardiac myopathy
Primarily dilated cardiac myopathy
Fibrosis of the posteriobasal left ventricular wall.
Respiratory complication
Respiratory changes due to scoliosis
Reduced lung volumes
Respiratory failure
Associated Complications
Obesity due to lack of physical activity as the child is confined to the wheel
Reduced LVEF
In beckers MD the patient retains strength for initial few years.

Investigations :
Lab findings :
Serum Creatine Kinase : Increased ( even before the symptoms

Muscular Dystrophy

Tall R wave
Increased R/S ratio
Deep Q waves
Small polyphasic potentials
Muscle biopsy :
Opaque hypertrophic fibres are seen.
Dystrophin analysis.
Genetic analysis

Management :
Patient information
Glucocorticoids :
Prednisone 0.75mg/kg/day
Side effects of prednisone should be monitored
Vit D supplementation should be done.
Immunization for pneumococcal diseases should be done.
For cardiac complications
ACE inhibitors to improve the LVEF
For respiratory
Orthopaedic complication
Tendon release
Scoliosis Mx