Spinocerebellar Ataxia Type 3 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations. Synonyms Azorean disease of the nervous system MJD …
Spinocerebellar Ataxia Type 2 Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Synonyms SCA2 Incidence How common is Spinocerebellar Ataxia Type 2? Prevalence is estimated to be 1-2 in …
Spinocerebellar Ataxia Type 1 Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Synonyms SCA1 Incidence How common is Spinocerebellar Ataxia Type 1? 1-9/100000 Prevalence is estimated to be 1-2 …
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) The inherited cerebrovascular illness known as CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) first appears in mid-adulthood and is marked by recurrent subcortical ischemic strokes as well as cognitive impairment that eventually leads to dementia. About one-third of patients experience mood issues …
Cold Agglutinin Disease Cold agglutinin disease (CAD) is a form of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of “cold” autoantibodies, i.e. active at lower temperatures at 30°C. Synonyms CAD CASE Cold agglutinin syndrome Incidence How common is Cold Agglutinin Disease? 1-9 / 1,000,000 It would represent 16 to 32% of …
Idiopathic acute transverse myelitis A rare immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement. Epidemiology How common is this condition? Annual incidence is estimated at between 1/1,000,000 and 1/250,000 depending on the study. Onset may occur at any age and both sexes may be affected. What are the symptoms …
Treacher Collins Syndrome A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia) a very small low jaw (micrognathia) and downward-slanting palpebral fissures coloboma of the lower eyelids microtia hearing loss and without abnormalities of the extremities Intelligence is normal. Synonyms Franceschetti-Klein syndrome Mandibulofacial dysostosis without limb anomalies Incidence …