Autoszomális recesszív · Only a small number of families have been reported.
Caused by changes in both copies of the LAMA5 gene, which makes laminin alpha-5, part of the basement membrane that supports cells in many tissues, including the kidneys and the junctions between nerves and muscles.
Tünetek és jelek
Only a small number of people have been described, and features vary. Reported features include developmental delay, seizures in infancy (sometimes with spasms), low muscle tone or muscle weakness, and kidney problems. The full range of the condition is still being defined.
Mit változtat a diagnózis
Care is tailored to the features present, which may include kidney, muscle, developmental and seizure assessment. Genetic counselling is recommended, and carrier testing is available for relatives.
Vizsgált gének
