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Partington syndrome

Reviewed May 2013

What is Partington syndrome?

Partington syndrome is a neurological disorder that causes intellectual disability along with a condition called focal dystonia that particularly affects movement of the hands. Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe.

The intellectual disability associated with Partington syndrome usually ranges from mild to moderate. Some affected individuals have characteristics of autism spectrum disorders that affect communication and social interaction. Recurrent seizures (epilepsy) may also occur in Partington syndrome.

Focal dystonia of the hands is a feature that distinguishes Partington syndrome from other intellectual disability syndromes. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions; tremors; and other uncontrolled movements. The term "focal" refers to a type of dystonia that affects a single part of the body, in this case the hands. In Partington syndrome, focal dystonia of the hands, which is called the Partington sign, begins in early childhood and gradually gets worse. This condition typically causes difficulty with grasping movements or using a pen or pencil.

People with Partington syndrome may also have dystonia affecting other parts of the body; dystonia affecting the muscles in the face and those involved in speech may cause impaired speech (dysarthria). People with this disorder may also have an awkward way of walking (gait). Signs and symptoms can vary widely, even within the same family.

How common is Partington syndrome?

The prevalence of Partington syndrome is unknown. About 20 cases have been described in the medical literature.

What genes are related to Partington syndrome?

Partington syndrome is caused by mutations in the ARX gene. This gene provides instructions for producing a protein that regulates the activity of other genes. Within the developing brain, the ARX protein is involved with movement (migration) and communication of nerve cells (neurons). In particular, this protein regulates genes that play a role in the migration of specialized neurons (interneurons) to their proper location. Interneurons relay signals between other neurons.

The normal ARX protein contains four regions where a protein building block (amino acid) called alanine is repeated multiple times. These stretches of alanines are known as polyalanine tracts. The most common mutation that causes Partington syndrome, a duplication of genetic material written as c.428_451dup, adds extra alanines to the second polyalanine tract in the ARX protein. This type of mutation is called a polyalanine repeat expansion. The expansion likely impairs ARX protein function and may disrupt normal interneuron migration in the developing brain, leading to the intellectual disability and dystonia characteristic of Partington syndrome.

Related Gene(s)

Changes in this gene are associated with Partington syndrome.

  • ARX

How do people inherit Partington syndrome?

This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females with one altered copy of the gene may have some signs and symptoms related to the condition. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Where can I find information about diagnosis or management of Partington syndrome?

These resources address the diagnosis or management of Partington syndrome and may include treatment providers.

  • American Academy of Child and Adolescent Psychiatry: Services in School for Children with Special Needs (http://www.aacap.org/AACAP/Families_and_Youth/Facts_for_Families/Facts_for_Families_Pages/Services_In_School_For_Children_With_Special_Needs__What_Parents_Need_To_Know_83.aspx)
  • American Academy of Pediatrics: What is a Developmental/Behavioral Pediatrician? (http://www.healthychildren.org/English/family-life/health-management/pediatric-specialists/pages/What-is-a-Developmental-Behavioral-Pediatrician.aspx)
  • Centers for Disease Control and Prevention: Developmental Screening Fact Sheet (http://www.cdc.gov/ncbddd/actearly/pdf/parents_pdfs/DevelopmentalScreening.pdf)
  • Genetic Testing Registry: Partington X-linked mental retardation syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0796250)

You might also find information on the diagnosis or management of Partington syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/partington-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/partington-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Partington syndrome?

You may find the following resources about Partington syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Partington syndrome?

  • MRX36
  • Partington-Mulley syndrome
  • Partington X-linked mental retardation syndrome
  • PRTS
  • X-linked intellectual deficit-dystonia-dysarthria
  • X-linked mental retardation with dystonic movements, ataxia, and seizures

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Partington syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Partington syndrome?

alanine ; amino acid ; ataxia ; autism ; cell ; chromosome ; disability ; duplication ; dysarthria ; dystonia ; dystonic movements ; epilepsy ; gait ; gene ; inheritance ; inherited ; involuntary ; mental retardation ; mutation ; neurological ; prevalence ; protein ; recessive ; sex chromosomes ; sign ; spectrum ; syndrome ; X-linked recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Cossée M, Faivre L, Philippe C, Hichri H, de Saint-Martin A, Laugel V, Bahi-Buisson N, Lemaitre JF, Leheup B, Delobel B, Demeer B, Poirier K, Biancalana V, Pinoit JM, Julia S, Chelly J, Devys D, Mandel JL. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet A. 2011 Jan;155A(1):98-105. doi: 10.1002/ajmg.a.33785. (http://www.ncbi.nlm.nih.gov/pubmed/21204215?dopt=Abstract)
  • Frints SG, Froyen G, Marynen P, Willekens D, Legius E, Fryns JP. Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. Am J Med Genet. 2002 Nov 1;112(4):427-8. (http://www.ncbi.nlm.nih.gov/pubmed/12376949?dopt=Abstract)
  • Partington MW, Turner G, Boyle J, Gécz J. Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. Clin Genet. 2004 Jul;66(1):39-45. (http://www.ncbi.nlm.nih.gov/pubmed/15200506?dopt=Abstract)
  • Poirier K, Lacombe D, Gilbert-Dussardier B, Raynaud M, Desportes V, de Brouwer AP, Moraine C, Fryns JP, Ropers HH, Beldjord C, Chelly J, Bienvenu T. Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. Neurogenetics. 2006 Mar;7(1):39-46. Epub 2005 Oct 19. (http://www.ncbi.nlm.nih.gov/pubmed/16235064?dopt=Abstract)
  • Sherr EH. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr Opin Pediatr. 2003 Dec;15(6):567-71. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14631200?dopt=Abstract)
  • Shoubridge C, Fullston T, Gécz J. ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat. 2010 Aug;31(8):889-900. doi: 10.1002/humu.21288. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20506206?dopt=Abstract)
  • Suri M. The phenotypic spectrum of ARX mutations. Dev Med Child Neurol. 2005 Feb;47(2):133-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15707237?dopt=Abstract)
  • Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. Am J Med Genet. 2002 Nov 1;112(4):405-11. (http://www.ncbi.nlm.nih.gov/pubmed/12376946?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2013
Published: December 16, 2014