Alexander Disease Information Page
... Alexander disease is a rare, genetically determined degenerative disorder of the central nervous system. It is one of a group of disorders known as the leukodystrophies, diseases that result from impe...

Batten Disease Information Page
... Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learn...

Canavan Disease Information Page
... Canavan disease, one of the most common cerebral degenerative diseases of infancy, is a gene-linked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue r...

Charcot-Marie-Tooth Disorder Information Page
... Charcot-Marie-Tooth disorder (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of ...

Craniosynostosis Information Page
... Craniosynostosis is a birth defect of the brain characterized by the premature closure of one or more of the fibrous joints between the bones of the skull (called the cranial sutures) before brain gro...

Dystonias Information Page
... The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, ma...

Familial Periodic Paralyses Information Page
... Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in...

Leukodystrophy Information Page
... Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerv...

Muscular Dystrophy Information Page
... The muscular dystrophies (MD) are a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles which control movement. There are many forms of muscular dy...

Neurofibromatosis Information Page
... The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. These disorders cause tumors to grow on nerves and pr...

Pelizaeus-Merzbacher Disease Information Page
... Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is on...

Rett Syndrome Information Page
... Rett syndrome is a progressive neurological disorder in which individuals exhibit reduced muscle tone, autistic-like behavior, hand movements consisting mainly of wringing and waving, loss of purposef...

Tay-Sachs Disease Information Page
... Tay-Sachs disease is a fatal genetic disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. Infants with Tay-Sachs disease appear ...

Tuberous Sclerosis Information Page
... Tuberous sclerosis is a rare genetic, neurological disorder primarily characterized by seizures, mental retardation, and skin and eye lesions. In some cases, neurobehavioral problems may also occur. I...

Wilson''s Disease Information Page
... Wilson's disease is an inherited disorder in which excessive amounts of copper accumulate in the body. Although the accumulation of copper begins at birth, symptoms of the disorder appear later in...

Waardenburg Syndrome
... Waardenburg syndrome (WS) is an inherited disorder often characterized by varying degrees of hearing loss and changes in skin and hair pigmentation. The syndrome got its name from a Dutch eye doctor n...

Tuberous Sclerosis Fact Sheet
... Tuberous sclerosis-also called tuberous sclerosis complex (TSC)1 - is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys,...

Porphyria
... Porphyria is a group of different disorders caused by abnormalities in the chemical steps leading to the production of heme, a substance that is important in the body. The largest amounts of heme are ...

Questions and Answers about Heritable Disorders of Connective Tissue
... This fact sheet describes a family of more than 200 disorders that affect connective tissues. These disorders result from alterations (mutations) in genes responsible for building tissues. Alterations...

Gene Hunting
... Many years of research have demonstrated that vulnerability to mental illnesses—such as schizophrenia, bipolar disorder, early-onset depression, anxiety disorders, autism, and attention deficit hype...

Huntington''s Disease: Hope Through Research
... In 1872, the American physician George Huntington wrote about an illness that he called "an heirloom from generations away back in the dim past." He was not the first to describe the disorder, which h...

Hemochromatosis
... Excess iron is stored in body tissues, especially the liver, heart, and pancreas. Hemochromatosis, the most common form of iron overload disease, is an inherited disorder that causes the body to absor...

Batten Disease Fact Sheet
... Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. Early symptoms of this disorder usually appear between the ages of 5 and 10, when parents or physicians ma...

Friedreich''s Ataxia Fact Sheet
... Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness and speech problems to heart disease. It is name...