Archives: Conditions A-Z
Beta-thalassemia major
Severe reduction in beta-globin causing transfusion-dependent anemia and iron overload.
Bardet-Biedl syndrome
Ciliopathy with obesity, retinal dystrophy, polydactyly, renal anomalies and hypogonadism.
Acute intermittent porphyria
A defect of haem biosynthesis causing acute attacks; treated acutely with hemin and prophylactically with RNAi therapy.
Methylmalonic acidemia
Organic acidemia with metabolic acidosis, hyperammonemia and risk of metabolic stroke.
Alkaptonuria
Homogentisic acid accumulation causing dark urine, ochronosis and degenerative arthritis.
Chronic inflammatory demyelinating polyneuropathy
A treatable immune-mediated neuropathy; immunoglobulin, steroids and a newer FcRn antagonist are used.
CADASIL
Inherited small-vessel arteriopathy causing migraine, recurrent subcortical strokes and vascular dementia.
Charcot-Marie-Tooth disease
A group of inherited peripheral neuropathies; management is supportive with orthoses, physiotherapy and foot care.