Distal hereditary motor neuropathy, type V


What is distal hereditary motor neuropathy (HMN) type 5?

Distal hereditary motor neuropathy, type V (DHMN5) is a progressive genetic condition that affects the nerves in the spinal cord. Individuals with this condition experience muscle weakness in their hands and feet. Symptoms usually begin in adulthood with most having their first symptoms between the teen years and 40s; however, symptoms can begin anytime from infancy to older adulthood. A common first symptom of DHMN5 is hand cramping in cold temperatures. This is typically followed by difficulty controlling the hands, and muscle weakness and deterioration (atrophy), primarily on the thumb side of the index finger and on the palm at the base of the thumb. Foot abnormalities, such as a high arch (pes cavus) are also common in people with DHMN5. As the disease slowly progresses, about half of people with DHMN5 will also have weakness in their feet with some people eventually having problems walking. Sometimes, people with DHMN5 will have difficulty feeling vibrations in their feet. People with this disorder have a normal life expectancy.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/distal-hereditary-motor-neuronopathy/overview/3616 • DATE UPDATED: 2016-06-10




Irobi J, Dierick I, Jordanova A, Claeys KG, De Jonghe P, Timmerman V.Unraveling the genetics of distal hereditary motor neuronopathies.. 2006;8(1-2):131-46. http://cmt.org.uk/wp-content/uploads/2015/02/unraveling.pdf

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