Autosomal recessive cerebellar ataxia–blindness–deafness syndrome (AR-CABDS) is a very rare inherited (genetic) brain and sensory disorder. Children usually start with balance and coordination ...
Autosomal Recessive Cerebellar Ataxia due to GBA2 Deficiency is a rare inherited brain and nerve disorder in which both copies of a person’s GBA2 gene don’t work properly. The GBA2 gene makes an ...
Autosomal recessive cerebellar ataxia with late-onset spasticity (often shortened to ARCA-LOS) is a rare inherited brain and nerve disorder. “Cerebellar ataxia” means the balance and coordination ...
Autosomal recessive cerebellar ataxia–pyramidal signs–nystagmus–oculomotor apraxia syndrome (ARCA-PS-N-OMA) is a very rare, inherited brain disorder. “Autosomal recessive” means a child gets one ...
Autosomal recessive centronuclear myopathy (AR-CNM) is a rare genetic muscle disease. It weakens the skeletal muscles of the body (the muscles you use to move and breathe). In this condition, the ...
Brachyolmia, Hobaek/Toledo type is a rare genetic bone condition that mainly affects the spine. Children usually look normal at birth and in early life, but as they grow, their trunk stays short ...
Autosomal recessive brachyolmia is a rare genetic bone disorder. The spine is the main area involved. People have a short trunk, mild short height, and flat vertebral bodies (platyspondyly) on X-ray. ...
Gamstorp-Wohlfart syndrome is a rare, inherited nerve disorder. It mainly affects the long nerves that carry signals from the spinal cord to the muscles (motor axons). Over time, these nerves work ...
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia (AR-CMT2-N) is a rare, inherited nerve disease. It mainly damages the long “wire-like” parts of nerves (axons) that carry ...
Autosomal recessive axonal neuropathy with neuromyotonia is a rare, inherited nerve disease. It starts when both copies of a person’s HINT1 gene carry harmful changes (mutations). Because of this, ...
Spinocerebellar ataxia, autosomal recessive type 8 (SCAR8) is a rare, inherited brain disorder. It mainly affects the cerebellum, the part of the brain that controls balance and coordination. People ...
Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a rare, inherited brain condition that mainly affects the cerebellum, the part of the brain that controls balance, coordination, and clear ...
Autosomal recessive ataxia, Beauce type is a rare, inherited brain condition that mainly affects the cerebellum, the part of the brain that controls balance and coordination. Because the ...
Autosomal recessive ataxia due to CoQ10 deficiency is a rare, inherited brain and muscle energy problem. Your body makes CoQ10 to help mitochondria (the cell’s “power stations”) turn food into energy ...
Autosomal recessive cerebellar ataxia type 2 (ARCA2) is a rare, inherited brain disorder. It happens when both copies of a gene called COQ8A (also known as ADCK3) do not work correctly. This gene ...
COL4A4-related Alport syndrome and thin basement membrane nephropathy (TBMN are genetic conditions that affect the kidney’s filter (the glomerular basement membrane, or GBM), which is built from type ...
Autosomal recessive Alport syndrome 2 (ARAS2) is a genetic kidney disease caused by harmful changes in the COL4A4 gene. This gene helps make type IV collagen, a key building block of the thin filters ...
Autosomal recessive Alport syndrome is an inherited kidney disease caused by changes (variants) in the COL4A3 or COL4A4 genes. These genes make parts of type IV collagen, a structural protein that ...
Autosomal erythropoietic protoporphyria (EPP) is a rare, inherited blood and skin disorder. It happens because the body cannot finish making heme, the oxygen-carrying part of hemoglobin. The last ...
Dermodistortive urticaria—often shortened to DDU—is a rare “physical urticaria.” It means the skin makes quick, itchy swellings (hives/wheals) exactly where the skin is vibrated, repetitively ...
