Autosomal Dominant Charcot-Marie-Tooth Disease Type 2M (CMT2M) is a rare, inherited nerve disease that mainly damages the axon (the long wire) of peripheral nerves. It weakens the small muscles of ...
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation is a rare, inherited nerve disease. “Autosomal dominant” means a single faulty gene copy can cause disease, and it can be ...
Autosomal-dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation is a rare, inherited nerve disease that affects the axons (the “wires”) of peripheral nerves. It runs in families in an ...
Autosomal dominant CMT2 due to KIF5A mutation is a rare, inherited nerve disorder that mainly damages the axons (the long “wires”) of peripheral nerves. “Autosomal dominant” means a change in a ...
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation (often shortened to CMT2-KIF5A) is a hereditary nerve condition that mainly damages the axon (the long cable) of peripheral ...
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 (DGAT2) mutation is an inherited nerve disease that damages the long wires of the peripheral nerves ...
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 due to DGAT2 Mutation is a very rare, inherited nerve disease. It affects the axons—the long “wires” of the peripheral nerves that carry signals ...
Autosomal dominant cerebellar ataxia–hearing loss–narcolepsy syndrome is a very rare, inherited brain and nerve disorder in which three main problems appear over time: (1) cerebellar ataxia—worsening ...
Autosomal dominant cerebellar ataxia, deafness and narcolepsy is a very rare, inherited brain and nerve disease. “Autosomal dominant” means a single changed gene from one parent is enough to cause ...
Autosomal dominant spinocerebellar ataxias are a family of inherited brain disorders that mainly affect the cerebellum—the balance and coordination center. “Autosomal dominant” means a child has a ...
Autosomal dominant centronuclear myopathy (AD-CNM) linked to MYF6 is a rare, inherited muscle disease. In CNM, many muscle fibers show their nuclei in the center instead of the edges when viewed ...
Autosomal dominant centronuclear myopathy is a rare inherited muscle disease. It mainly happens when a single copy of a changed gene (often DNM2) is passed from a parent or appears as a new change ...
Autosomal dominant aplasia and myelodysplasia is a rare, inherited blood and bone-marrow disorder. “Autosomal dominant” means the condition can pass from a parent to a child when one changed ...
Autosomal agammaglobulinemia is a group of inherited immune system disorders in which a baby is born with a major problem making B cells (the white blood cells that turn into plasma cells to make ...
Behçet-like disease due to HA20 is a rare, inherited autoinflammatory condition caused by having only one working copy of a gene called TNFAIP3, which makes a protein named A20. A20 normally works ...
Autoinflammatory syndrome, familial Behçet-like 1 (AIFBL1) is a rare, inherited immune-system disorder that causes repeated episodes of whole-body inflammation. People develop painful mouth and ...
Immune dysregulation syndrome is an umbrella term for conditions where the body’s immune system has trouble switching off inflammation or keeping a healthy tolerance to one’s own tissues. Instead of ...
Autoinflammation-PLCγ2-associated Antibody Deficiency and Immune Dysregulation (APLAID) is a very rare genetic immune disease. It happens when a change (mutation) in a gene called PLCG2 makes a ...
Schmidt syndrome is a lifelong autoimmune condition where the body’s defense system mistakenly attacks more than one hormone-making gland at the same time. The “core” problem is Addison disease ...
This condition is a cluster of autoimmune disorders that tend to occur together in the same person. The “core” problem is autoimmune Addison disease (the adrenal glands are attacked by the immune ...
