GOSR2-related progressive myoclonus ataxia

GOSR2-related progressive myoclonus ataxia, also known as Progressive myoclonic epilepsy type 6 is a rare genetic type of progressive myoclonus ataxia which is characterized by progressive myoclonic epilepsy with an early onset which is associated with generalized tonic-clonic seizures, petit mal seizures, and drop attacks, variable degrees of scoliosis, areflexia, high levels of creatine kinase serum, and late-onset cognitive decline.^[1][2]

GOSR2-related progressive myoclonus ataxia
Other names	EPM6, PME type 6, Progressive myoclonic epilepsy type 6, North Sea progressive myoclonus epilepsy, Progressive myoclonus epilepsy type 6
Specialty	Medical genetics
Symptoms	Myoclonic epilepsy with progressive ataxia
Complications	Walking, consciousness, sanity
Usual onset	Early
Duration	Lifelong
Types	This disorder is a type of progressive myoclonic epilepsy, but it doesn't have any subtypes itself
Causes	Autosomal recessive genetic mutation
Diagnostic method	Genetic testing
Treatment	Physical therapy
Frequency	very rare, only 12 cases have been described in medical literature
Deaths	-

According to OMIM,^[3] only 12 cases have been described in medical literature.^[4][5][6] It is caused by autosomal recessive loss of function mutations in the (as the name implies) GOSR2 gene, in chromosome 17.^[4]