ALDH18A1-related complex spastic paraplegia is a rare inherited nerve disease. It mainly makes the legs stiff and weak over time (this is called “spastic ...

ALDH18A1-related autosomal recessive complex spastic paraplegia is a rare inherited nerve disease. It mainly affects the long nerve fibers that run from the ...

Autosomal recessive complex spastic paraplegia type 9B (SPG9B) is a rare, inherited brain and nerve disease. It starts in childhood. The main sign is stiff, ...

Autosomal recessive complex spastic paraplegia (SPG) due to Kennedy pathway dysfunction is a rare, inherited brain and spinal-cord disorder. “Spastic ...

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction is a genetic, childhood- or teen-onset nerve disease. “Autosomal recessive” ...

Autosomal recessive cerebral atrophy is a rare, inherited (autosomal recessive) neurodegenerative condition in which the cerebral cortex and its white matter ...

Autosomal recessive cerebellar ataxias (ARCAs) are a large family of rare, inherited brain disorders where both parents silently carry one faulty gene copy and ...

Autosomal recessive cerebellar ataxia–saccadic intrusion syndrome is a rare, inherited movement disorder. “Autosomal recessive” means a person must receive one ...

SCAR3 Spinocerebellar Ataxia Autosomal Recessive Type 3 is a rare inherited brain disorder that mainly affects the cerebellum (the balance and coordination ...

Autosomal recessive spinocerebellar ataxia–blindness–hearing-loss syndrome is a rare genetic brain-nerve disorder. Children usually start life looking healthy, ...

Autosomal recessive spinocerebellar ataxia type 3 (SCAR3/SCABD) is a rare, inherited brain and nerve disorder that starts in childhood. It mainly affects the ...

Autosomal recessive cerebellar ataxia–blindness–deafness syndrome (AR-CABDS) is a very rare inherited (genetic) brain and sensory disorder. Children usually ...

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 ...

Autosomal recessive cerebellar ataxia due to GBA2 deficiency is a rare, inherited brain disorder. It mainly affects the cerebellum, the part of the brain that ...

Autosomal recessive cerebellar ataxia with late-onset spasticity (often shortened to ARCA-LOS) is a rare inherited brain and nerve disorder. “Cerebellar ...

Autosomal recessive cerebellar ataxia–pyramidal signs–nystagmus–oculomotor apraxia syndrome (ARCA-PS-N-OMA) is a very rare, inherited brain disorder. ...

Centronuclear myopathy is a group of rare, inherited muscle diseases. In CNM, the muscle fibers do not form and mature in the usual way before birth or in ...

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 ...

Brachyolmia is a rare group of bone growth conditions that mainly affect the spine. Children or adults with brachyolmia usually have a short trunk, mild short ...

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 ...