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Alexander disease is a rare, progressive neurological disorder caused by destruction of nerve fibers in the brain leading to seizures, spasticity (muscle stiffness), and mental retardation. Alexander disease is one of a group of disorders known as the leukodystrophies. ...

Alexander Disease is a rare, progressive neurological disorder caused by the destruction of nerve fibers in the brain leading to seizures, spasticity (muscle stiffness) and mental retardation ...

Alkaptonuria is a rare childhood disorder that causes a substance called homogentisic acid to build up in the body. Children with this disorder have an enzyme that doesn’t work correctly. This enzyme is unable to breakdown two important amino acids called tyrosine and phenylalanine. Homogentisic acid then starts to collect in abnormal amounts in the body. Too much homogentisic acid can cause prob...

Allergic Bronchopulmonary Aspergillosis (ABPA) is an allergic reaction to a type of fungus called Aspergillus fumigatus. ABPA is characterized by inflammation and narrowing of the bronchi and alveoli, which are parts of the airway. ABPA occurs only in those who are hypersensitive to this type of fungus. ...

Alpers’ disease is an extremely rare degenerative disease of the brain that affects infants and children. It is characterized by developmental delay, seizures, and liver disease. The disease is progressive (gets worse with time) and is fatal. ...

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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