Rare diseases | T&F

Huntington’s chorea is caused by a poly-lysine trinucleotide repeat expansion.

Central hypoventilation syndrome (CHS) occurs as a consequence of chronic bronchitis and respiratory acidosis.

Subacute sclerosing panencephalitis (SSPE) may be cured with intravenous anti-viral therapy.

Multiple endocrine neoplasia Type 1 is associated with elevated levels of calcitonin.

Scrombroid toxicity occurs as a result of ingesting poisonous mushrooms.

Spinothalamic tracts convey sensations of pain and temperature as well as crude touch from the ipsilateral side of the body.

Methylene blue is used to treat methaemoglobinaemia.

Patent ductus arteriosus causes Eisenmenger syndrome.

Reye syndrome results from lysosomal storage dysfunction secondary to aspirin ingestion.

Ebola reston kills humans as a result of haemorrhagic blood loss.