Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy characterized by rapid progression of muscle degeneration, eventually leading to loss of ambulation and death. This affliction affects one in 3500 males, making it the most prevalent of muscular dystrophies. In general, only males are afflicted, though females can be carriers. The disorder is caused by a mutation in the gene DMD, located in humans on the X... more
top ↑

Similar topics in Freebase

  • Sickle-cell disease

    Sickle-cell disease

    Sickle-cell disease, or sickle-cell anaemia (or drepanocytosis), is a life-long blood disorder characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells' flexibility and results in a risk of various complications. The sickling occurs because of a...
  • Amyotrophic lateral sclerosis

    Amyotrophic lateral sclerosis

    Amyotrophic lateral sclerosis is a form of motor neuron disease. ALS, sometimes called Maladie de Charcot, is a progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. The...
  • 22q11.2 deletion syndrome

    22q11.2 deletion syndrome

    22q11.2 deletion syndrome, also known as DiGeorge Syndrome, Velocardiofacial Syndrome, conotruncal anomaly face syndrome, Congenital Thymic Aplasia, Strong Syndrome, Thymic hypoplasia, and DiGeorge anomaly is a syndrome caused by the deletion of a small piece of chromosome 22. The deletion occurs...
  • Tay-Sachs disease

    Tay-Sachs disease

    Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which...
  • Phenylketonuria

    Phenylketonuria

    Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine ('Phe') to the amino acid tyrosine. When PAH is deficient, phenylalanine...
  • Coeliac disease

    Coeliac disease

    Coeliac disease (pronounced /ˈsiːli.æk/; spelled celiac disease in North America) is an autoimmune disorder of the small intestine that occurs in genetically predisposed people of all ages from middle infancy onward. Symptoms include chronic diarrhoea, failure to thrive (in children), and fatigue,...

These people have edited this topic:

Edit this topic
Edit and Show details

Add or delete facts, download data in JSON or RDF formats, and explore topic metadata.

Freebase Logo
What is Freebase?

Freebase is a huge collection of facts, built by people like you. Freebase connects facts in ways other sites can't, giving you new ways to explore millions of subjects.
You can help improve it!

Freebase Attribution

Freebase data is free for use under the CC-BY license.

The original description for Duchenne muscular dystrophy was automatically generated from Wikipedia.org licensed under the GNU Free Documentation License.
[1]
Learn more about Freebase licensing and attribution