Muscular Dystrophy

Muscular dystrophies are a family of hereditary (genetic) diseases that cause progressive and steady muscle weakening and wasting. Dystrophies owe their name to a genetic defect in the synthesis of a muscular protein, called dystrophin, which is an essential functional building block of skeletal (and, in some diseases, cardiac) muscle. When our body lacks the correct genetic sequence for dystrophin, our cells produce a defective and non-functional version of dystrophin, which in turns causes muscles to gradually waste and weaken

Dystrophies consist of some 100 diseases: of these, only 9 are always classified as actual dystrophies, while the others are not actual dystrophies, but diseases with similar symptoms. The universally recognized dystrophies are:

  • Duchenne Muscular Dystrophy
  • Becker's Muscular Dystrophy
  • Limb Girdle Muscular Dystrophy
  • Congenital Muscular Dystrophy
  • Fascioscapulohumeral Muscular Dystrophy
  • Myotonic Muscular Dystrophy
  • Oculopharyngeal MD
  • Distal MD
  • Emery-Dreifuss MD

Due to this diversity, the severity in symptoms of different muscular dystrophies may vary greatly, from very mild to deadly, with the most dangerous being the ones that affect cardiac muscle and the diaphragm (the main respiratory muscle). The age of onset can vary from childhood to adult age, and there are also several differences in the rate of progression and muscle distribution. Generally, symptoms include the inability, or reduced ability, to walk erect and perform muscle-intensive workouts (such as weight-lifting); other symptoms include frequent calf cramps, limited range of motion, scoliosis (curved back) and inability to keep one's eyelids open (eyelid ptosis). As the severity of the disease increases, other symptoms may include an inability to breathe and frequent heart problems, at which point medical assistance is absolutely essential for survival

Dystrophies can generally be diagnosed with the highest accuracy using a DNA blood test (which will determine if the testee's version of the protein dystrophin is abnormal) or a muscle biopsy

As with many genetic diseases, a successful and effective treatment has not already been discovered, but research is currently making big strides towards genetic engineering, and a treatment may be available in a few decades. Meanwhile, patients are generally advised to keep their muscles in good shape by exercising them (with specific training and workouts), and undergo medical treatment such as orthopedic surgery and drug administration

For more specific information, please refer to our articles

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