Autosomal recessive early-onset Parkinson disease 6 is a genetic form of Parkinson’s disease caused by two disease-causing variants (one from each parent) in the PINK1 gene. PINK1 is a protein kinase ...
Tyrosine hydroxylase–deficient dopa-responsive dystonia is a rare, inherited movement disorder. It happens because the TH gene does not work properly. The TH gene makes the tyrosine hydroxylase ...
Dopa-responsive dystonia (DRD) is a rare, highly treatable movement disorder in which muscles contract or twist involuntarily (dystonia). Symptoms often start in childhood with foot turning in, ...
Autosomal recessive infantile parkinsonism is a group of rare brain movement disorders that start very early in life—often in the first months or first years. “Autosomal recessive” means a baby gets ...
Autosomal recessive DOPA-responsive dystonia is a group of rare genetic conditions where the brain cannot make enough dopamine, a chemical that helps control movement. Because dopamine is low, the ...
Distal hereditary motor neuropathy, Jerash type is a rare, inherited nerve and muscle disease. It harms the motor nerves that control muscle movement. It mainly affects the muscles far from the trunk ...
Distal Hereditary Motor Neuropathy Type 6 (dHMN-VI)) is a group of rare, inherited conditions where the long nerves that move muscles slowly deteriorate. Weakness starts far from the body’s ...
Distal osteolysis–short stature–intellectual disability syndrome is a very rare, inherited bone disorder that begins in early childhood. The tip bones of the fingers and toes (the distal phalanges) ...
Autosomal Recessive Distal Osteolysis Syndrome (ARDOS) is a very rare genetic condition where the small bones at the tips of the hands and feet gradually dissolve (osteolysis). It usually starts in ...
Autosomal recessive cutis laxa type 2 (ARCL2) due to PYCR1 is a rare inherited connective tissue condition. The skin is loose, wrinkled, and hangs with poor elastic “snap back.” Children often look a ...
Autosomal recessive cutis laxa type 2B (ARCL2B) is a rare, inherited connective-tissue condition where a child is born with loose, wrinkled skin (cutis laxa) and features that can look “early aged” ...
Cutis laxa with osteodystrophy is a rare group of inherited connective-tissue conditions. The skin looks loose, soft, and wrinkled because the elastic fibers are weak. “Osteodystrophy” means the ...
Cutis laxa with congenital disorder of glycosylation (CDG) is a rare inherited condition where a baby is born with loose, saggy skin (cutis laxa) and multisystem problems caused by a genetic error in ...
Autosomal recessive axonal Charcot-Marie-Tooth disease due to a copper-metabolism defect is a very rare inherited nerve disease. It mainly damages the long “wires” (axons) of the peripheral ...
CABC1-related CoQ10 deficiency is a rare, inherited disease where the body cannot make enough coenzyme Q10, a small molecule that helps cells make energy inside mitochondria. The problem happens ...
Autosomal recessive spinocerebellar ataxia type 9 (SCAR9) is a rare inherited brain disorder that mainly affects the cerebellum, the part of the brain that organizes balance and smooth, coordinated ...
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 ataxia due to ubiquinone deficiency is a genetic, inherited condition in which the body cannot make enough coenzyme Q10 (CoQ10, also called ubiquinone). CoQ10 is a small ...
Severe congenital neutropenia (SCN) is a rare disorder present from birth where the body makes far too few neutrophils, the white blood cells that first fight bacteria and many fungi. Because ...
Congenital isolated growth hormone deficiency type II is a genetic condition that mainly affects a child’s growth. “Congenital” means present from birth. “Isolated” means only the growth hormone ...
