What is Leukodystrophy, Hypomielinating, 10 (HLD10)?
It is a recently identified genetic syndrome. Often also called hypomyelinating leukodystrophy type 10 with microcephaly this rare disorder has been identified mainly in families where the parents are related by blood. So far this has involved 11 families worldwide.
What gene changes cause Leukodystrophy, Hypomielinating, 10 (HLD10)?
Mutations in the PYCR2 gene are responsible for causing the syndrome.
The syndrome is inherited in an autosomal recessive pattern.
Up to 27 different genes with different mechanisms of inheritance and similar clinical characteristics have been described and should be considered as differential diagnoses.
What are the main symptoms of Leukodystrophy, Hypomielinating, 10 (HLD10)?
The primary symptoms of the syndrome are poor growth after birth and a reduced life expectancy, with most individuals affected by the condition not living past the age of ten.
Other symptoms include psychomotor disability that progresses and worsens with age, hyperkinetic movements, and low muscle tone.
Affected individuals have a small head and other unique facial features.
There is also some evidence of global brain atrophy in affected individuals.
How is it diagnosed?
To find out if someone has a diagnosis of Leukodystriphy, Hypomielinating, 10 (HLD10), it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
