Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare, slowly progressive disease of the brain and spinal cord white matter. “White matter” contains ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Pigment anomaly-ectrodactyly-hypodontia syndrome describes a heritable condition that affects structures made from the body’s outer layer (ectoderm)—skin, ...
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 ...
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 ...
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 ...
Classic Refsum disease is a rare, inherited (autosomal recessive) disorder where the body cannot properly break down a special fat called phytanic acid. In ...
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 ...
Adult Polyglucosan Body Disease is a rare genetic disease that mainly harms the nervous system in adults. It happens when a body enzyme called ...
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 ...
Adult neuronal ceroid lipofuscinosis is a rare, inherited brain disease. In this condition, nerve cells cannot clear certain waste materials normally. The ...
Adult familial nephronophthisis–spastic quadriparesia syndrome is a rare inherited condition that affects both the kidneys and the nervous system. ...
Sudanophilic cerebral sclerosis is a rare, severe demyelinating disease of the brain’s white matter. “Demyelinating” means the fatty insulation (myelin) around ...
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 ...
Encephalitis periaxialis concentrica is a rare inflammatory disease of the brain. It damages the insulation of nerve fibers, called myelin. Doctors also call ...
Myelinoclastic diffuse sclerosis (MDS) is a very rare inflammatory disease of the brain in which the immune system strips away myelin—the protective coating ...
Diffuse cerebral sclerosis of Schilder is a very rare demyelinating disease of the brain. “Demyelinating” means the immune system attacks the myelin coating ...
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 ...
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 ...
X-linked recessive adrenomyeloneuropathy (AMN) is a lifelong, inherited nerve and adrenal gland disorder that mostly affects people who have one X chromosome ...
Adrenoleukodystrophy (often shortened to ALD) is an inherited condition that mainly affects the brain, spinal cord, adrenal glands, and sometimes the testes. ...
