Autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease is a rare, inherited, adult-onset white-matter disease of the brain and spinal cord caused by extra copies or over-activity of the ...
Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare, slowly progressive disease of the brain and spinal cord white matter. “White matter” contains nerve fibers wrapped in myelin, the ...
Pigment anomaly-ectrodactyly-hypodontia syndrome describes a heritable condition that affects structures made from the body’s outer layer (ectoderm)—skin, hair, nails, teeth, and the lacrimal ...
ADULT syndrome is a rare genetic condition that affects parts of the body that come from the ectoderm (skin, hair, nails, teeth, tear ducts) and the limbs (hands and feet). It is usually passed down ...
Phytanoyl-CoA hydroxylase deficiency is a rare inherited disease. Your body cannot break down a special fat called phytanic acid. This fat comes mostly from dairy fat and meat from cows, sheep, and ...
Phytanic acid oxidase deficiency is a rare inherited disorder in which your body cannot properly break down a special fat called phytanic acid. This fat comes from foods like dairy, beef and lamb ...
Classic Refsum disease is a rare, inherited (autosomal recessive) disorder where the body cannot properly break down a special fat called phytanic acid. In healthy people, phytanic acid—found mainly ...
Adult Refsum Disease (ARD) is a rare, inherited metabolic disorder where the body cannot properly break down phytanic acid, a branched-chain fat found in ruminant animal fat (beef, lamb, mutton, ...
Adult Polyglucosan Body Disease is a rare genetic disease that mainly harms the nervous system in adults. It happens when a body enzyme called glycogen-branching enzyme (GBE1) does not work well. ...
Kufs disease is a rare, inherited brain disorder that starts in the teen years to late adulthood. Waste materials called ceroid lipofuscin build up inside nerve cells because the cell’s recycling ...
Adult neuronal ceroid lipofuscinosis is a rare, inherited brain disease. In this condition, nerve cells cannot clear certain waste materials normally. The waste (called “ceroid lipofuscin”) builds up ...
Adult familial nephronophthisis–spastic quadriparesia syndrome is a rare inherited condition that affects both the kidneys and the nervous system. “Nephronophthisis” is a kidney disease where the ...
Sudanophilic cerebral sclerosis is a rare, severe demyelinating disease of the brain’s white matter. “Demyelinating” means the fatty insulation (myelin) around nerve fibers is damaged, so signals ...
Siemerling–Creutzfeldt disease is an older name for X-linked adrenoleukodystrophy (X-ALD). It is a genetic disease. A change (mutation) in the ABCD1 gene makes the body unable to break down very ...
Encephalitis periaxialis concentrica is a rare inflammatory disease of the brain. It damages the insulation of nerve fibers, called myelin. Doctors also call it Baló’s concentric sclerosis. In this ...
Myelinoclastic diffuse sclerosis (MDS) is a very rare inflammatory disease of the brain in which the immune system strips away myelin—the protective coating around nerve fibers—in large areas of the ...
Diffuse cerebral sclerosis of Schilder is a very rare demyelinating disease of the brain. “Demyelinating” means the immune system attacks the myelin coating that surrounds nerve fibers. When the ...
Bronze-Schilder disease is an older name for X-linked adrenoleukodystrophy (ALD), a genetic disorder caused by harmful changes in the ABCD1 gene. This gene makes a transporter protein in tiny cell ...
Adrenomyeloneuropathy is a long-term nerve and spinal cord disease. It is an adult form of X-linked adrenoleukodystrophy (X-ALD). A change (mutation) in the ABCD1 gene causes the body to build up ...
X-linked recessive adrenomyeloneuropathy (AMN) is a lifelong, inherited nerve and adrenal gland disorder that mostly affects people who have one X chromosome (typically males). It is caused by ...
