Duchenne muscular dystrophy

   

Duchenne muscular dystrophy (DMD) is inherited as an X-linked recessive disorder, though one-third of cases are spontaneous mutants. DMD occurs in 1 in 3000 male infants.
The Duchenne muscular dystrophy locus has been localized to the Xp21 region of the X chromosome; there is absence of the gene product - the protein dystrophin , which is a rod-shaped cytoskeletal muscle protein. DMD is usually obvious by the fourth year, and often causes death by 20.


Sign and Symptom of Duchenne muscular dystrophy

Dystrophin is essential for cell membrane stability, and deficiency leads to reduction in three glycoproteins (now called a-, ß- and ?-sarcoglycan) which link dystrophin to laminin within the cell membrane.

The boy with DMD is noticed to have difficulty in running and in rising to an erect position from the floor, when he has to use the hands to climb up his legs (Gowers' sign).
There is initially a proximal limb weakness with pseudohypertrophy of the calves. The myocardium is affected. The boy becomes severely disabled by the age of 10.

Differential diagnosis of Duchenne muscular dystrophy

- biopsy remains the most effective test for differentiating the various muscular dystrophies;
- Myopathic Disorders
- Becker Muscular Dystrophy
- Facioscapulohumeral Muscular Dystrophy
- Limb Girdle








 

Share |

Related Articles on Deficiency Diseases

  Hemochromatosis
  Siderosis
  Anemia
  Thalassemia
  Sideroblastic anemia
  Porphyria cutanea tarda
  Sickle-cell anemia
  Wilsons Disease
  kwashiorkor
  Menkes syndrome
  Neutropenia
  Keratomalacia
  Xerophthalmia
  Prophylaxis
  Rhodopsin
  Bitot's spots
  Beriberi
  Pellagra
  Macrocytic anemia
  Megaloblastic anemia
  Pernicious anemia
  Scurvy
  Rickets
  Osteomalacia
  Abetalipoproteinemia
  Muscular dystrophy
  Haemolytic anaemia
  Cholestatic Jaundice Constipation
  Myxedema
  Cretinism
  Hypothyroidism
  Hypothyroidism symptom
  Losing weight with hypothyroidism
  Subclinical hypothyroidism
  Congenital hypothyroidism
  Hashimotos thyroiditis
  Postpartum thyroiditis
  Hyperthyroidism
  Hyperthyroidism symptom
  Feline hyperthyroidism
  Graves disease
  Thyrotoxicosis
   Plummer's disease
  Thyroid storm
  Fluorosis
  Acrodermatitis enteropathica
  Metal fume fever
  Keshan disease
Metabolic Syndrome

Nutrition - Vitamins | Amino Acids | Herbs | Minerals | Nutrients | Supplements | Enzymes
Wellness - Healthy Living | Dental Care | Products | Skin Vitamins | Ayurveda | Slideshow
Health - Deficiency | Alternative Medicines | How To | Symptoms | Food Kitchen How tos?
Fitness - Exercises | Gardening
Food & Cooking - Recipes | Fruits & Vegetables
Healthy Eating & Diet - Diet | Weight Loss | Green Tea | Noni Juice | Acai
Online Vitamins Guide

Nutrition Articles | Your Feedback & Suggestions | Newsletter
Disclaimer | Blog
Home © 2001-2013 online-vitamins-guide.com. All rights reserved.