Muscular Dystrophy

Subject: Child Health Nursing

Overview

Muscular dystrophies are a group of hereditary disorder with gradual atrophy of various skeletal muscle groups. It characterized by gradual onset in early life with an involvement of proximal muscles, loss of deep tendon reflexes and pseudohypertrophy of muscles. Initially, the muscle fibers swell, followed by hyaline degeneration and increased connective tissue formation. Infiltration of fat between the fibers may give the muscle an appearance of hypertrophy. The clinical features of muscular dystrophy are pseudohypertrophic muscular dystrophy, pelvic-femoral type,facio- scapulo- humeral type, distal myopathy, ocular myopathy and so on.Physiotherapy, exercise, walking and use of tricycle help to maintain ambulation and to prevent deterioration of muscular functions and contracture.

Muscular dystrophies are a group of hereditary disorders with gradual atrophy of various skeletal muscle groups. It is characterized by gradual onset in early life with involvement of proximal muscles, loss of deep tendon reflexes, and pseudohypertrophy of muscles. Initially, the muscle fibers swell, followed by hyaline degeneration and increased connective tissue formation. Infiltration of fat between the fibers may give the muscle an appearance of hypertrophy.

Degenerative changes and the central location of a nucleus in the muscle fibers are often present.

Clinical types

  1. pseudohypertrophic muscular dystrophy
  2. limb-girdle type
  3. pelvic-femoral type
  4. facio- scapulo- humeral type
  5. distal myopathy

Diagnosis

  • Careful history of illness
  • Physical examination
  • Laboratory investigation of serum enzymes
  • EMG and muscle biopsy

Management

  • There is no effective management of muscular dystrophy.
  • Prolonged immobilization should be avoided.
  • Physiotherapy, exercise, walking, and the use of a tricycle help to maintain ambulation and prevent deterioration of muscular functions and contracture.
  • Orthopedic appliances and surgical interventions are useful.
  • Emotional support to the parents should be provided with explanation and reassurance.
  • Replacement therapy dystrophin replacement therapy, myoblast transfer therapy.

 

 
Things to remember
  • Muscular dystrophies are a group of hereditary disorder with gradual atrophy of various skeletal muscle groups.
  • It characterized by gradual onset in early life with an involvement of proximal muscles, loss of deep tendon reflexes and pseudohypertrophy of muscles.
  • Initially, the muscle fibers swell, followed by hyaline degeneration and increased connective tissue formation. Infiltration of fat between the fibers may give the muscle an appearance of hypertrophy.
  • . The clinical features of muscular dystrophy are pseudohypertrophic muscular dystrophy, pelvic-femoral type,facio- scapulo- humeral type, distal myopathy, ocular myopathy and so on.
  • Physiotherapy, exercise, walking and use of tricycle help to maintain ambulation and to prevent deterioration of muscular functions and contracture.
Questions and Answers

A group of hereditary disorders known as muscular dystrophies cause various skeletal muscle groups to gradually atrophy. It is characterized by a slow onset in infancy, proximal muscle involvement, loss of deep tendon reflexes, and muscle pseudohypertrophy. The muscle fibers initially swell, then hyaline degeneration and an increase in connective tissue formation occur. If there is fat infiltration between the fibers, the muscle may appear to have grown larger.

  • Pseudohypertrophic muscular dystrophy.
  • Limb girdle type.
  • Pelvic-femoral type.
  • Facio-scapulo-humeral type.
  • Distal myopathy.

Management

  • The treatment of muscular dystrophy is ineffective.
  • Avoid being immobile for an extended period of time.
  • Exercise, tricycle usage, physical treatment, and walking all assist to preserve ambulation and stop contracture and muscle atrophy.
  • Surgical procedures and orthopedic devices are helpful.
  • Parents should be given emotional support along with clarification and assurance.
  • substitution treatment Myoblast transfer therapy, dystrophin replacement therapy.

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