Autozomálně dominantní
Loss-of-function changes in one copy of NEK1 are found more often in people with ALS than in controls. They act as risk factors, and loss-of-function changes carry a higher risk than missense changes.
Příznaky a projevy
When ALS develops it begins with weakness, muscle wasting, cramps or twitching in a limb, or with slurred speech or swallowing difficulty. Weakness spreads over time and eventually affects breathing. Changes in thinking or behaviour, including frontotemporal dementia, can also occur.
Co se diagnózou změní
People with symptoms benefit from early specialist assessment and multidisciplinary care, including nutrition and breathing support. Genetic counselling is important before testing relatives.
Analyzované geny
Známé také jako
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