Browse rare diseases content in conditions.
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Amyloidosis is a rare disease caused by abnormal protein (amyloid) deposition in organs. Learn about AL, AA, and hereditary ATTR amyloidosis, Congo red staining diagnosis, tafamidis for cardiac ATTR, bortezomib/daratumumab for AL amyloidosis, and organ transplantation.
Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, leading to progressive kidney, heart, and neurological damage. Treated with enzyme replacement therapy (ERT) and chaperone therapy (migalastat). Learn about diagnosis, monitoring, and screening.
Gaucher disease is the most common lysosomal storage disorder, caused by glucocerebrosidase enzyme deficiency. It affects approximately 1 in 40,000 people globally, but 1 in 850 in Ashkenazi Jewish populations. Enzyme replacement therapy (ERT) transforms outcomes.
Huntington's disease is an autosomal dominant neurodegenerative condition caused by CAG trinucleotide repeat expansion in the HTT gene, causing progressive chorea, cognitive decline, and psychiatric symptoms. Learn about genetic testing, predictive testing, tetrabenazine for chorea, multidisciplinary care, and the search for disease-modifying treatments.
Myasthenia gravis affects 200,000 people globally, causing fluctuating muscle weakness from acetylcholine receptor antibodies. Ptosis and diplopia are hallmark early symptoms. Pyridostigmine, immunosuppression (prednisolone, azathioprine), and thymectomy are key treatments.
Rare genetic disorders collectively affect 300 million people worldwide. Individually rare (fewer than 1 in 2,000), collectively common — 80% are genetic in origin. Learn about chromosomal and single-gene disorder mechanisms, newborn screening, gene therapy, and specialist rare disease services.
Sarcoidosis is a multi-system granulomatous disease affecting 10–40 per 100,000 people, predominantly involving the lungs and lymph nodes. Learn about ACE levels, serum calcium, HRCT, transbronchial biopsy, prednisolone treatment, and Löfgren syndrome.
Wilson disease is a rare autosomal recessive disorder of copper metabolism affecting 1 in 30,000, causing liver disease, neurological symptoms, and Kayser-Fleischer rings. Learn about penicillamine, trientine, zinc acetate, and liver transplantation.
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