RARS related hypomyelination
Hypomyelinating Leukodystrophy 9 (HLD9)
Inheritance:
Autosomal recessive
Inheritance from both parents will result in the disease
Age range at onset:
Up to one year old
Specialists you may see:
Symptoms
Typically characterised by severe spasticity, delayed psychomotor development, nystagmus and ataxia. Microcephaly has also been observed.
Cause
Mutations in the RARS gene cause this condition. The RARS gene creates the multi-RNA synthetase complex; levels of this in those with HLD9 are significantly reduced.