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GTR Home > Conditions/Phenotypes > Hypermanganesemia with dystonia 2

Hypermanganesemia with dystonia 2

Summary

Excerpted from the GeneReview: SLC39A14 Deficiency
SLC39A14 deficiency is typically characterized by evidence of delay or loss of motor developmental milestones (e.g., delayed walking, gait disturbance) between ages six months and three years. Early in the disease course, children show axial hypotonia followed by dystonia, spasticity, dysarthria, bulbar dysfunction, and signs of parkinsonism including bradykinesia, hypomimia, and tremor. By the end of the first decade, they develop severe, generalized, pharmaco-resistant dystonia, limb contractures, and scoliosis, and lose independent ambulation. Cognitive impairment appears to be less prominent than motor disability. Some affected children have died in their first decade due to secondary complications such as respiratory infections. One individual with disease onset during the late teens has been reported, suggesting that milder adult presentation can occur.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Karin Tuschl
Allison Gregory
Esther Meyer
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Available tests

16 tests are in the database for this condition.

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Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HCIN, HMNDYT2, LZT-Hs4, NET34, ZIP14, cig19, SLC39A14
    Summary: solute carrier family 39 member 14

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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