Rare Neurology News
Advertisement
Disease Profile
Cramp-fasciculation syndrome
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.
#N/A
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Summary
Cramp-fasciculation
Symptoms
Cause
The following have been reported to be associated with CFS:[2][3]
- Genetic or autoimmune dysfunction of ion channels
Peripheral neuropathy - Anterior-horn-cell disease
- Metabolic abnormalities
Tumors (most commonly thymoma)
Some
Diagnosis
Electromyography (EMG) or repetitive nerve stimulation studies may also be done to assess the health of muscles and the nerves that control them. In repetitive nerve stimulation studies, muscle responses are recorded when the nerves are repetitively stimulated by small pulses of electricity.[3][6]
Treatment
Decisions regarding treatment should be carefully considered and discussed with a knowledgeable healthcare provider.
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cramp-fasciculation syndrome. Click on the link to view a sample search on this topic.
References
- Tahmoush AJ, Alonso RJ, Tahmoush GP, Heiman-Patterson TD. Cramp-fasciculation syndrome: a treatable hyperexcitable peripheral nerve disorder. Neurology. July 1991; 41(7):1021-1024. https://www.ncbi.nlm.nih.gov/pubmed/1648679.
- Shimatani Y, Nodera H, Shibuta Y, Miyazaki Y, Misawa S, Kuwabara S, Kaji R. Abnormal gating of axonal slow potassium current in cramp-fasciculation syndrome. Clin Neurophysiol. June 2015; 126(6):1246-1254. https://www.ncbi.nlm.nih.gov/pubmed/25304174.
- Liewluck T, Klein CJ, Jones LK Jr. Cramp-fasciculation syndrome in patients with and without neural autoantibodies. Muscle Nerve. March 2014; 49(3):351-356. https://www.ncbi.nlm.nih.gov/pubmed/23836298.
- Nirenberg MJ, Chaouni R, Biller TM, Gilbert RM, Paisán-Ruiz C. A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome. Clin Genet. January, 2018; 93(1):164-168. https://www.ncbi.nlm.nih.gov/pubmed/28436534.
- Nirenberg MJ, Chaouni R, Biller TM, Gilbert RM, Paisán-Ruiz C. A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome. Clin Genet. April 24, 2017; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/28436534.
- Harrison TB, Benatar M.. Accuracy of repetitive nerve stimulation for diagnosis of the cramp-fasciculation syndrome. Muscle Nerve. June 2007; 35(6):776-780. https://www.ncbi.nlm.nih.gov/pubmed/17405138.
- Jansen PH, van Dijck JA, Verbeek AL, Durian FW, Joosten EM.. Estimation of the frequency of the muscular pain-fasciculation syndrome and the muscular cramp-fasciculation syndrome in the adult population. Eur Arch Psychiatry Clin Neurosci. 1991; 241(2):102-4. Accessed 3/18/2015.
Rare Neurology News