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Partington syndrome(PRTS)

MedGen UID:
163237
Concept ID:
C0796250
Disease or Syndrome
Synonyms: MENTAL RETARDATION, X-LINKED 36; Mental retardation, X-linked, syndromic 1; Mental retardation, X-linked, with dystonic movements, ataxia, and seizures; Mental retardation-dystonic movements-ataxia-seizures syndrome; Partington X-linked mental retardation syndrome; PRTS
SNOMED CT: Partington syndrome (702412005); Partington-Mulley syndrome (702412005); X-linked intellectual deficit-dystonia-dysarthria syndrome (702412005); Partington x-linked mental retardation syndrome (702412005); Partington X-linked intellectual disability syndrome (702412005)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Gene (location): ARX (Xp21.3)
 
Monarch Initiative: MONDO:0010654
OMIM®: 309510
Orphanet: ORPHA94083

Definition

Partington syndrome (PRTS) is an X-linked developmental disorder characterized by impaired intellectual development and variable movement disturbances. Partington syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (see 308350) to nonsyndromic intellectual disability (300419). Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008). [from OMIM]

Additional description

From MedlinePlus Genetics
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.  https://medlineplus.gov/genetics/condition/partington-syndrome

Clinical features

From HPO
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Atypical behavior
MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Focal dystonia
MedGen UID:
149279
Concept ID:
C0743332
Disease or Syndrome
A type of dystonia that is localized to a specific part of the body.
Limb dystonia
MedGen UID:
152944
Concept ID:
C0751093
Sign or Symptom
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
Lower limb spasticity
MedGen UID:
220865
Concept ID:
C1271100
Finding
Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Infantile spasms
MedGen UID:
854616
Concept ID:
C3887898
Disease or Syndrome
Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Triangular face
MedGen UID:
324383
Concept ID:
C1835884
Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPartington syndrome
Follow this link to review classifications for Partington syndrome in Orphanet.

Professional guidelines

PubMed

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
Neurogenetics 2006 Mar;7(1):39-46. Epub 2005 Oct 19 doi: 10.1007/s10048-005-0014-0. PMID: 16235064

Recent clinical studies

Etiology

Curie A, Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, Cheylus A, Bertrand S, Rochefort F, Bussy G, Marignier S, Lacombe D, Chiron C, Cossée M, Leheup B, Philippe C, Laugel V, De Saint Martin A, Sacco S, Poirier K, Bienvenu T, Souville I, Gilbert-Dussardier B, Bieth E, Kauffmann D, Briot P, de Fréminville B, Prieur F, Till M, Rooryck-Thambo C, Mortemousque I, Bobillier-Chaumont I, Toutain A, Touraine R, Sanlaville D, Chelly J, Freeman S, Kong J, Hadjikhani N, Gollub RL, Roy A, des Portes V
Orphanet J Rare Dis 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25. PMID: 24528893Free PMC Article
Sherr EH
Curr Opin Pediatr 2003 Dec;15(6):567-71. doi: 10.1097/00008480-200312000-00004. PMID: 14631200

Diagnosis

Lumaka A, Race V, Peeters H, Corveleyn A, Coban-Akdemir Z, Jhangiani SN, Song X, Mubungu G, Posey J, Lupski JR, Vermeesch JR, Lukusa P, Devriendt K
Am J Med Genet A 2018 Sep;176(9):1897-1909. Epub 2018 Aug 8 doi: 10.1002/ajmg.a.40382. PMID: 30088852Free PMC Article
des Portes V
Handb Clin Neurol 2013;111:297-306. doi: 10.1016/B978-0-444-52891-9.00035-X. PMID: 23622180
Abedini SS, Kahrizi K, Behjati F, Banihashemi S, Ghasemi Firoozabadi S, Najmabadi H
Arch Iran Med 2012 Jun;15(6):361-5. PMID: 22642246
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
Neurogenetics 2006 Mar;7(1):39-46. Epub 2005 Oct 19 doi: 10.1007/s10048-005-0014-0. PMID: 16235064
Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J
Am J Med Genet 2002 Nov 1;112(4):405-11. doi: 10.1002/ajmg.10714. PMID: 12376946

Prognosis

Demos MK, Fullston T, Partington MW, Gécz J, Gibson WT
Am J Med Genet A 2009 Jul;149A(7):1482-6. doi: 10.1002/ajmg.a.32851. PMID: 19507262
Poirier K, Van Esch H, Friocourt G, Saillour Y, Bahi N, Backer S, Souil E, Castelnau-Ptakhine L, Beldjord C, Francis F, Bienvenu T, Chelly J
Brain Res Mol Brain Res 2004 Mar 17;122(1):35-46. doi: 10.1016/j.molbrainres.2003.11.021. PMID: 14992814

Clinical prediction guides

Curie A, Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, Cheylus A, Bertrand S, Rochefort F, Bussy G, Marignier S, Lacombe D, Chiron C, Cossée M, Leheup B, Philippe C, Laugel V, De Saint Martin A, Sacco S, Poirier K, Bienvenu T, Souville I, Gilbert-Dussardier B, Bieth E, Kauffmann D, Briot P, de Fréminville B, Prieur F, Till M, Rooryck-Thambo C, Mortemousque I, Bobillier-Chaumont I, Toutain A, Touraine R, Sanlaville D, Chelly J, Freeman S, Kong J, Hadjikhani N, Gollub RL, Roy A, des Portes V
Orphanet J Rare Dis 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25. PMID: 24528893Free PMC Article
Poirier K, Van Esch H, Friocourt G, Saillour Y, Bahi N, Backer S, Souil E, Castelnau-Ptakhine L, Beldjord C, Francis F, Bienvenu T, Chelly J
Brain Res Mol Brain Res 2004 Mar 17;122(1):35-46. doi: 10.1016/j.molbrainres.2003.11.021. PMID: 14992814
Frints SG, Borghgraef M, Froyen G, Marynen P, Fryns JP
Am J Med Genet 2002 Nov 1;112(4):361-8. doi: 10.1002/ajmg.10630. PMID: 12376938
Schutz CK, Ives EJ, Chalifoux M, MacLaren L, Farrell S, Robinson PD, White BN, Holden JJ
Am J Med Genet 1996 Jul 12;64(1):89-96. doi: 10.1002/(SICI)1096-8628(19960712)64:1<89::AID-AJMG16>3.0.CO;2-O. PMID: 8826457
Donnelly AJ, Choo KH, Kozman HM, Gedeon AK, Danks DM, Mulley JC
Am J Med Genet 1994 Jul 15;51(4):581-5. doi: 10.1002/ajmg.1320510457. PMID: 7943043

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