OMIM

Hypermanganesemia with dystonia-2 is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by Tuschl et al., 2016). For a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (613280). (617013)

MalaCards based summary

Hypermanganesemia with Dystonia 2, also known as hmndyt2, is related to hypermanganesemia with dystonia, and has symptoms including tremor, oromandibular dystonia and bradykinesia. An important gene associated with Hypermanganesemia with Dystonia 2 is SLC39A14 (Solute Carrier Family 39 Member 14). Affiliated tissues include brain.

UniProtKB/Swiss-Prot

Hypermanganesemia with dystonia 2: A metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function.