Torsion dystonia 2(DYT2)

MedGen UID:: 346511
•Concept ID:: C1857093
•: Disease or Syndrome

Synonyms:	Dystonia 2, torsion, autosomal recessive; Dystonia musculorum deformans type 2; DYT2
SNOMED CT:	Primary dystonia type 2 (715777007); Primary dystonia DYT2 type (715777007)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	HPCA (1p35.1)

Monarch Initiative:	MONDO:0009141
OMIM®:	224500
Orphanet:	ORPHA99657

Definition

Torsion dystonia-2 (DYT2) is an autosomal recessive neurologic disorder characterized by onset of symptoms in childhood or adolescence. 'Dystonia' is characterized by involuntary, sustained muscle contractions affecting 1 or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. DYT2 first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. DYT2 is slowly progressive but mild overall (summary by Muller and Kupke, 1990; Nemeth, 2002; Khan et al., 2003). [from OMIM]

Clinical features

From HPO

Dysphagia

MedGen UID:: 41440
•Concept ID:: C0011168
•: Disease or Syndrome

Difficulty in swallowing.

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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.

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Torsion dystonia

MedGen UID:: 3941
•Concept ID:: C0013423
•: Disease or Syndrome

Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.

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Torticollis

MedGen UID:: 11859
•Concept ID:: C0040485
•: Sign or Symptom

Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).

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Tremor