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disease: Leukodystrophy, hypomyelinating, 2

id5404
nameLeukodystrophy, hypomyelinating, 2
descriptionPelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy that typically presents during the neonatal or early-infantile period with nystagmus, commonly associated with hypotonia, delayed acquisition of motor milestones, speech delay, and dysarthria. Over time the hypotonia typically evolves into spasticity that affects the ability to walk and communicate. Cerebellar signs (gait ataxia, dysmetria, intention tremor, head titubation, and dysdiadochokinesia) frequently manifest during childhood. Some individuals develop extrapyramidal movement abnormalities (choreoathetosis and dystonia). Hearing loss and optic atrophy are observed in rare cases. Motor impairments can lead to swallowing difficulty and orthopedic complications, including hip dislocation and scoliosis. Most individuals have normal cognitive skills or mild intellectual disability – which, however, can be difficult to evaluate in the context of profound motor impairment.
variant-disease NM_020435.3(GJC2):c.989del (p.Pro330Argfs) AND Leukodystrophy, hypomyelinating, 2
NM_020435.3(GJC2):c.814T>G (p.Tyr272Asp) AND Leukodystrophy, hypomyelinating, 2
NM_020435.3(GJC2):c.695_696insG (p.Tyr232Terfs) AND Leukodystrophy, hypomyelinating, 2
NM_020435.3(GJC2):c.-167A>G AND Leukodystrophy, hypomyelinating, 2
NM_020435.3(GJC2):c.857T>C (p.Met286Thr) AND Leukodystrophy, hypomyelinating, 2
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