Clinical & Medical Disease Vault
Structured, evidence-based condition monographs and diagnostic pathways aggregated from WHO, CDC, NIH, and NICE Guidelines.
Charcot-Marie-Tooth Disease
An inherited peripheral neuropathy causing progressive distal muscle weakness, atrophy, and sensory loss, classically featuring pes cavus and hammer toes.
Myotonic Dystrophy Type 1
A genetic disorder causing progressive muscle wasting and inability to relax muscles after use, along with cataracts, heart rhythm problems, and endocrine issues.
Friedreich Ataxia
A progressive autosomal recessive neurodegenerative disease causing ataxia, sensory loss, and severe hypertrophic cardiomyopathy, driven by a GAA expansion in the FXN gene.
Chorea Gravidarum
A rare condition where a pregnant woman develops uncontrollable, jerky movements (chorea), often linked to underlying autoimmune diseases or a history of rheumatic fever.