Autoszomális domináns
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.
Tünetek és jelek
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.
Mit változtat a diagnózis
People with symptoms benefit from early specialist assessment and multidisciplinary care, including nutrition and breathing support. Genetic counselling is important before testing relatives.
Vizsgált gének
Más néven
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