PPM-X syndrome
Last updated 18 Aug 2020
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PPM-X syndrome is a condition characterised by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability with impaired language development. Other symptoms may include muscle stiffness (spasticity), exaggerated reflexes, and an abnormally small head (microcephaly). Affected males may have enlarged testes (macro-orchidism). Not all affected individuals have all these symptoms, but most have intellectual disability. Males with this condition are typically more severely affected than females, who usually have only mild intellectual disability or learning disabilities.
Description
PPM-X syndrome is a condition characterised by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability with impaired language development. Other symptoms may include muscle stiffness (spasticity), exaggerated reflexes, and an abnormally small head (microcephaly). Affected males may have enlarged testes (macro-orchidism). Not all affected individuals have all these symptoms, but most have intellectual disability. Males with this condition are typically more severely affected than females, who usually have only mild intellectual disability or learning disabilities.
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked. More than one pattern can apply in different cases.
Related genes
Other names
MRXS13
PPMX
X-linked mental retardation, syndromic 13
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Further reading and references
- PPM-X syndrome; MedlinePlus, National Library of Medicine.
- Francke U. Mechanisms of disease: neurogenetics of MeCP2 deficiency. Nat Clin Pract Neurol. 2006 Apr;2(4):212-21. doi: 10.1038/ncpneuro0148.
- Gonzales ML, LaSalle JM. The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep. 2010 Apr;12(2):127-34. doi: 10.1007/s11920-010-0097-7.
- Lambert S, Maystadt I, Boulanger S, Vrielynck P, Destree A, Lederer D, Moortgat S. Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity. Eur J Med Genet. 2016 Oct;59(10):522-5. doi: 10.1016/j.ejmg.2016.07.003. Epub 2016 Jul 25.
- Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H. Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion. Pediatr Res. 2010 May;67(5):551-6. doi: 10.1203/PDR.0b013e3181d4ecf7.
- Villard L. MECP2 mutations in males. J Med Genet. 2007 Jul;44(7):417-23. doi: 10.1136/jmg.2007.049452. Epub 2007 Mar 9.
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