Rare Nephrology News

Disease Profile

Propriospinal myoclonus

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Summary

Propriospinal myoclonus (PSM) is a rare movement disorder first described in 1991. It is characterized by painless, repetitive jerking of the trunk, neck, hips, and knees. The jerking may be spontaneous but may also occur in response to a stimulus. The jerking often gets worse when the person is lying down. In some cases, a strange sensation such as a tingling at the back of the neck, a clicking sensation in the head, or an electrical current-like sensation may precede the jerks. Causes of PSM can include a spinal lesion, infection, or certain medications. In some cases, PSM is thought to have a psychogenic component. In most cases, the cause is not known (idiopathic). The work-up usually includes an MRI to rule out spinal lesions. No current guidelines regarding the treatment of PSM exist. Therapy includes treatment of any underlying disorders. Several medications have been tried with varying success, but larger controlled studies are needed to learn more.[1][2][3][4]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

References

  1. van der Salm, Sandra et al.. Propriospinal myoclonus: Clinical reappraisal and review of literature. Neurology. November 11, 2014; 83(20):1862-1870. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240434. Accessed 9/16/2016.
  2. Caviness, John. Symptomatic (secondary) myoclonus. UpToDate. June 29, 2015; https://www.uptodate.com/contents/symptomatic-secondary-myoclonus. Accessed 9/16/2016.
  3. Brown, Peter. Propriospinal myoclonus: where do we go from here?. Mov. Disord.. August, 2014; 29(9):1092-3. https://www.ncbi.nlm.nih.gov/pubmed/?term=24985526. Accessed 9/16/2016.
  4. Antelmi, Elena and Provini, Federica.. Propriospinal myoclonus: The spectrum of clinical and neurophysiological phenotypes. Sleep Med Rev. August, 2015; 22:54-63. https://www.ncbi.nlm.nih.gov/pubmed/?term=25500332. Accessed 9/16/2016.