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1.

Dystonia 1

DYT1 early-onset isolated dystonia typically presents in childhood or adolescence and only on occasion in adulthood. Dystonic muscle contractions causing posturing or irregular tremor of a leg or arm are the most common presenting findings. Dystonia is usually first apparent with specific actions such as writing or walking. Over time, the contractions frequently (but not invariably) become evident with less specific actions and spread to other body regions. No other neurologic abnormalities are present. Disease severity varies considerably even within the same family. Isolated writer's cramp may be the only sign. [from GTR]

MedGen UID:
338823
Concept ID:
C1851945
Disease or Syndrome
2.

Dystonia 6, torsion

Dystonia-6 is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties (review by Djarmati et al., 2009). Blanchard et al. (2011) provided a review of dystonia-6 and the THAP1 gene. [from GTR]

MedGen UID:
236274
Concept ID:
C1414216
Disease or Syndrome
3.

Dystonia 3, torsion, X-linked

Individuals with X-linked dystonia-parkinsonism (XDP) have dystonia of varying severity and parkinsonism. XDP afflicts primarily Filipino men and, rarely, women. The mean age of onset in men is 39 years; the clinical course is highly variable with parkinsonism as the initial presenting sign, overshadowed by dystonia as the disease progresses. Features of parkinsonism include resting tremor, bradykinesia, rigidity, postural instability, and severe shuffling gait. The dystonia develops focally, most commonly in the jaw, neck, trunk, and eyes, and less commonly in the limbs, tongue, pharynx, and larynx, the most characteristic being jaw dystonia often progressing to neck dystonia. Individuals with pure parkinsonism have non-disabling symptoms that are only slowly progressive; those who develop a combination of parkinsonism and dystonia can develop multifocal or generalized symptoms within a few years and die prematurely from pneumonia or intercurrent infections. Female carriers are mostly asymptomatic, though a small minority may manifest dystonia, parkinsonism, or chorea. [from GTR]

MedGen UID:
326820
Concept ID:
C1839130
Disease or Syndrome
4.

Autosomal dominant torsion dystonia 4

Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait (summary by Hersheson et al., 2013). [from GTR]

MedGen UID:
342124
Concept ID:
C1851943
Disease or Syndrome
5.

Dystonia 2, torsion, autosomal recessive

Torsion dystonia-2 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 GTR]

MedGen UID:
346511
Concept ID:
C1857093
Disease or Syndrome
6.

Dystonia 7, torsion

Idiopathic torsion dystonia (ITD) is a clinically and genetically heterogeneous group of movement disorders characterized by sustained dystonic muscle contractions causing involuntary twisting movements and/or postures, where causes such as cerebral lesions (especially of the basal ganglia), drugs, or other neurologic disorders have not been found. Adult-onset torsion dystonia usually remains focal and is localized in the upper part of the body (summary by Leube et al., 1996). [from GTR]

MedGen UID:
355560
Concept ID:
C1865818
Disease or Syndrome
7.

Pashayan syndrome

A rare otorhinolaryngological malformation syndrome with characteristics of a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Reported in 3 families to date. The facies has a mask-like appearance due to weakness of facial muscles and lacrimal duct obstruction is characteristic. Clinical features also include telecanthus, bulky nose, broad nasal bridge, sometimes a hypoplastic midface, longitudinal cheek furrows, trapezoidal upper lip and malformation of the ears. Intellectual disability, cutaneous syndactyly, torsion dystonia, increased deep tendon reflexes; Babinski sign, poor coordination and joint laxity are also observed. [from SNOMEDCT_US]

MedGen UID:
163226
Concept ID:
C0796197
Disease or Syndrome
8.

Dystonia 13

MedGen UID:
335918
Concept ID:
C1843264
Disease or Syndrome
9.

Torsion dystonia with onset in infancy

MedGen UID:
400706
Concept ID:
C1865205
Disease or Syndrome
10.

Torsion dystonia

Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. [from HPO]

MedGen UID:
504795
Concept ID:
CN001195
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