Broken heart syndrome This is a rare heart disease characterized by acute heart failure triggered by emotional or physical stress. Cardiac wall movement abnormalities resolve within a few months. Symptoms resemble those of acute coronary syndrome (ACS). Synonyms Ampullary cardiomyopathy Bulge cardiomyopathy Stress-induced cardiomyopathy Takotsubo cardiomyopathy Apical swelling syndrome Transient apical bulge syndrome of the …
Clarksons disease Systemic capillary leak syndrome (SCLS) is a dangerous systemic condition characterized by increased capillary permeability. The condition is characterized by episodes of hypotension, edema, and hypovolemia. Synonyms Clarkson’s syndrome Capillary leak syndrome Incidence <1/1,000,000 How common is Clarksons disease? SCLS has been reported in fewer than 150 cases since it was first described …
Acrogeria A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have …
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 …