Hereditary geniospasm

How might hereditary geniospasm be diagnosed?

Although we were unable to locate laboratories offering genetic testing for hereditary geniospasm, the condition can be diagnosed on the basis of a clinical evaluation performed by a health care professional such as a neurologist who specializes in movement disorders.

Last updated on 05-01-20

How is hereditary geniospasm inherited?

Hereditary geniospasm is inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene in each body cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene and also be affected. Because there is a 50% chance for each child, it is possible for all of the children of an affected individual to be affected, or likewise, for all of the children to be unaffected.

Last updated on 05-01-20

How might hereditary geniospasm be treated?

Hereditary geniospasm, which may also be referred to as hereditary essential chin myoclonus, is generally considered a benign disorder although in some cases it can cause anxiety and social embarrassment. Significant improvement with age has been reported. Several drugs are used to treat myoclonus, such as benzodiazepines and anticonvulsants. However, individuals may not respond to a single medication and may experience significant side effects if a combination of drugs is used. It has also been suggested that botulinum toxin be considered as a primary treatment because it has been shown to be effective and well tolerated.

Last updated on 05-01-20

Selected Full-Text Journal Articles

Hereditary Geniospasm article

Jarman PR, Wood NW, Davis MT, Davis PV, Bhatia KP, Marsden CD, Davis MB. Hereditary Geniospasm: Linkage to Chromosome 9q13-q21 and Evidence for Genetic Heterogeneity. Am J Hum Genet. (1997) 61:928-933.

Last updated on 04-27-20

Name: International Parkinson and Movement Disorder Society 555 East Wells Street, Suite 1100
Milwaukee, WI, 53202-3823, United States
Phone: +1-414-276-2145 Fax : +1-414-276-3349 Email: info@movementdisorders.org Url: https://www.movementdisorders.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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