Category: Rx Neurology (A – Z)

Cerebro-oculo-facial-lymphatic syndrome (COFLS) is a very rare condition first described in medical journals in which the brain (cerebro-), eyes (oculo-), face (facial), and lymphatic...

Baraitser–Winter cerebrofrontofacial syndrome is a rare genetic condition that affects how the face, eyes, brain, and other parts of the body develop before birth....

Band heterotopia is a birth-time (congenital) problem in brain development. In early pregnancy, new brain cells (neurons) are supposed to travel outward to form...

Concentric sclerosis is a rare disease where the body’s immune system attacks the white matter (myelin) in the brain in a very special pattern—alternating...

Concentric demyelination means myelin (the insulation around nerve fibers) is lost in round, ring-like layers. On MRI and under the microscope, you see alternating...

Azorean disease (Machado-Joseph disease/SCA3) is a rare, inherited brain disorder that slowly affects balance, walking, speech, eye movements, and fine hand control. It runs...

SYT14-related autosomal recessive syndromic cerebellar ataxia is a rare inherited brain disorder. It mainly affects the cerebellum, the part of the brain that controls...

Autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14 (SCAR11) is a rare, inherited brain disorder that mainly affects the cerebellum, the part...

Psychomotor Delay Syndrome means a child is slower than most children their age to do movement and thinking skills such as rolling, sitting, walking,...

Autosomal Recessive Spinocerebellar Ataxia 11 (SCAR11) is a very rare genetic brain disorder that mainly damages the cerebellum, the part of the brain that...

Spinocerebellar ataxia (SCA) is a group of rare, inherited brain disorders. In SCA, parts of the brain that control balance and coordination—especially the cerebellum—slowly...

Autosomal recessive spinocerebellar ataxia 10 (SCAR10) is a rare, inherited brain disorder that mainly affects the cerebellum—the part that coordinates balance, speech, and eye...

Autosomal recessive complex spastic paraplegia caused by mutations in CAPN1 is a rare inherited nerve disorder. It mainly makes the legs stiff and tight...

Microcephalia vera” means “true microcephaly.” Doctors used this older term for babies who are born with a much smaller head because the brain did...

Intermediate Charcot–Marie–Tooth disease is a group of inherited nerve disorders that slowly damage the long nerves to the legs and arms. The intermediate form...

Severe infantile axonal neuropathy with respiratory failure type 1 is a very rare inherited nerve disease that begins in early infancy. It mainly damages...

Distal hereditary motor neuronopathy, Harding type VI (often shortened to dHMN VI or HMN VI), is a rare, inherited nerve disease. It mainly damages...