MedGen

Dystonia-32 (DYT32) is an autosomal recessive neurologic disorder characterized by sustained or intermittent muscle contractions causing abnormal movements or posturing. The onset of symptoms is in adulthood, and the disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia. There are no additional neurologic signs or symptoms (summary by Monfrini et al., 2021). In a review of the pathogenesis of disorders with prominent dystonia, Monfrini et al. (2021) classified DYT32 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS11. [from OMIM]

Hypomyelinating leukodystrophy-12 (HLD12) is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. In a review of the pathogenesis of disorders with prominent dystonia or opisthotonic posturing as a feature, Monfrini et al. (2021) classified HLD12 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS11. [from OMIM]