Mitochondrial neuro-gastrointestinal encephalopathy is a rare but important differential diagnosis in patients presenting with acute gastrointestinal and neurological symptoms.

Rhabdomyolysis is the rapid breakdown of damaged skeletal muscle. In some cases, there may be a genetic cause.

Ptosis and ophthalmoplegia can have numerous causes. Once acquired causes are excluded, genetic conditions should be considered.

Neurogenic muscle weakness, ataxia and retinitis pigmentosa is an important cause of ataxia, especially in patients with a family history suggestive of maternal inheritance.

Myoclonic epilepsy with ragged red fibres is a relatively common cause of myoclonic epilepsy, especially when associated with maternal inheritance.

Mitochondrial encephalopathy lactic acidosis and stroke-like episodes is a common genetic diagnosis in patients with a suspected mitochondrial condition.

Genomic testing should be considered in all adults with unexplained leukodystrophy on neuroimaging, with or without a family history.