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Thursday, Aug 28, 2008 | 12:53 AM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
Full disease list by letter:
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All
Machado-Joseph Disease
MJD, Joseph disease, Spinocerebellar Ataxia Type 3, SCA-3
Machado-Joseph disease (MJD) is a rare, progressive genetic disease, characterized by problems with movement and balance (ataxia), abnormal muscle spasms, involuntary eye movements, and difficulties with speech and eating. It is caused by an inherited gene defect that damages cells in the brain and spinal cord, which then leads to the problems with the muscles.
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Maffucci Syndrome
Multiple cartilaginous enchondromatosis
Maffucci syndrome is a rare condition that affects the skin and the skeletal systems. It is characterized by three abnormalities: endochondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (malformations of blood vessels). These malformed blood vessels are usually underneath the skin. The cartilage enlargements can appear anywhere but usually appear on the long bones of ...
Malignant Hyperthermia
Malignant hyperthermia is a disorder of skeletal muscle and is characterized by prolonged muscle contraction and increased body temperature after being exposed to certain kinds of anesthesia or muscle relaxants. It is inherited in an autosomal dominant manner. Although this condition can be life-threatening, it can be treated if the symptoms are recognized early and therapy is promptly initiated.
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Maple Syrup Urine Disease
Branched-Chain Ketoaciduria
Maple syrup urine disease (MSUD) is an inherited, genetic disorder in which the body does not break down certain molecules called amino acids. Amino acids are important molecules that make up the various proteins for our bodies. Amino acids are important for many functions such as growth and development. The amino acids that cannot be broken down in MSUD are leucine, isoleucine, and valine (called...
Marden-Walker Syndrome
Marden-Walker syndrome (MWS) is a very rare connective tissue disorder. Individuals with MWS often have certain facial features, limited joint movements called contractures, very slow growth and development, and decreased muscle mass and movements.
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