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Dystonia 16(DYT16)

MedGen UID:
436979
Concept ID:
C2677567
Disease or Syndrome
Synonyms: DYT16
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 (HPO, OMIM, Orphanet)
SNOMED CT: Dystonia 16 (722435003); Early-onset dystonia parkinsonism (722435003)
 
Gene (location): PRKRA (2q31.2)
OMIM®: 612067
Orphanet: ORPHA210571

Definition

Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through adulthood, although it most often begins in childhood.The signs and symptoms of dystonia 16 vary among people with the condition. In many affected individuals, the disorder first affects muscles in one or both arms or legs. Tensing (contraction) of the muscles often sets the affected limb in an abnormal position, which may be painful and can lead to difficulty performing tasks, such as walking. In others, muscles in the neck are affected first, causing the head to be pulled backward and positioned with the chin in the air (retrocollis).In dystonia 16, muscles of the jaw, lips, and tongue are also commonly affected (oromandibular dystonia), causing difficulty opening and closing the mouth and problems with swallowing and speech. Speech can also be affected by involuntary tensing of the muscles that control the vocal cords (laryngeal dystonia), resulting in a quiet, breathy voice or an inability to speak clearly. Dystonia 16 gradually gets worse, eventually involving muscles in most parts of the body.Some people with dystonia 16 develop a pattern of movement abnormalities known as parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). In dystonia 16, parkinsonism is relatively mild if it develops at all.The signs and symptoms of dystonia 16 usually do not get better when treated with drugs that are typically used for movement disorders.
[from GHR]

Clinical features

From HPO
Lower limb pain
MedGen UID:
6033
Concept ID:
C0023222
Sign or Symptom
A sensation of discomfort emanating from the femur or its supporting structures.
Limb pain
MedGen UID:
10540
Concept ID:
C0030196
Sign or Symptom
Painful sensation in the upper or lower extremities.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
A symptom referring to difficulty in swallowing. It may be observed in patients with stroke, motor neuron disorders, cancer of the throat or mouth, head and neck injuries, Parkinson disease, and multiple sclerosis.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
A symptom referring to difficulty in swallowing. It may be observed in patients with stroke, motor neuron disorders, cancer of the throat or mouth, head and neck injuries, Parkinson disease, and multiple sclerosis.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)
Dyskinesia
MedGen UID:
8514
Concept ID:
C0013384
Disease or Syndrome
Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above.
Bradykinesia
MedGen UID:
115925
Concept ID:
C0233565
Sign or Symptom
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Abnormal pyramidal signs
MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Postural tremor
MedGen UID:
66696
Concept ID:
C0234378
Sign or Symptom
A type of tremors that is triggered by holding a limb in a fixed position.
Parkinsonism
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
A notable change in cognitive function.
Involuntary movements
MedGen UID:
140884
Concept ID:
C0427086
Sign or Symptom
Uncontrolled and purposeless movements.
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.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
A finding referring to walking difficulties.
Limb dystonia
MedGen UID:
152944
Concept ID:
C0751093
Sign or Symptom
Dysphonia
MedGen UID:
282893
Concept ID:
C1527344
Mental or Behavioral Dysfunction
A speech disorder resulting in impaired utterance of sounds by the vocal folds.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Laryngeal dystonia
MedGen UID:
409603
Concept ID:
C1963946
Disease or Syndrome
A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.
Retrocollis
MedGen UID:
854508
Concept ID:
C3887667
Disease or Syndrome
A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.
Morphological abnormality of the pyramidal tract
MedGen UID:
892809
Concept ID:
C4021761
Anatomical Abnormality
Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.
Retrocollis
MedGen UID:
854508
Concept ID:
C3887667
Disease or Syndrome
A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.
Dysphonia
MedGen UID:
282893
Concept ID:
C1527344
Mental or Behavioral Dysfunction
A speech disorder resulting in impaired utterance of sounds by the vocal folds.
Laryngeal dystonia
MedGen UID:
409603
Concept ID:
C1963946
Disease or Syndrome
A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.
Lower limb pain
MedGen UID:
6033
Concept ID:
C0023222
Sign or Symptom
A sensation of discomfort emanating from the femur or its supporting structures.
Limb pain
MedGen UID:
10540
Concept ID:
C0030196
Sign or Symptom
Painful sensation in the upper or lower extremities.
Retrocollis
MedGen UID:
854508
Concept ID:
C3887667
Disease or Syndrome
A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDystonia 16
Follow this link to review classifications for Dystonia 16 in Orphanet.

Recent clinical studies

Etiology

Eggink H, Kuiper A, Peall KJ, Contarino MF, Bosch AM, Post B, Sival DA, Tijssen MA, de Koning TJ
Orphanet J Rare Dis 2014 Nov 26;9:177. doi: 10.1186/s13023-014-0177-6. PMID: 25425461Free PMC Article
Camargos S, Lees AJ, Singleton A, Cardoso F
J Neurol Neurosurg Psychiatry 2012 Oct;83(10):1012-4. Epub 2012 Jul 28 doi: 10.1136/jnnp-2012-302841. PMID: 22842711Free PMC Article
Xiao J, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, Zhao Y, LeDoux MS
BMC Med Genet 2009 Mar 11;10:24. doi: 10.1186/1471-2350-10-24. PMID: 19284587Free PMC Article
Egidi M, Franzini A, Marras C, Cavallo M, Mondani M, Lavano A, Romanelli P, Castana L, Lanotte M; Functional Neurosurgery Study Group of the Italian Society of Neurosurgery.
J Neurosurg Sci 2007 Dec;51(4):153-8. PMID: 18176524
Sommer M, Ruge D, Tergau F, Beuche W, Altenmüller E, Paulus W
Mov Disord 2002 Sep;17(5):1017-25. doi: 10.1002/mds.10205. PMID: 12360552

Diagnosis

Eggink H, Kuiper A, Peall KJ, Contarino MF, Bosch AM, Post B, Sival DA, Tijssen MA, de Koning TJ
Orphanet J Rare Dis 2014 Nov 26;9:177. doi: 10.1186/s13023-014-0177-6. PMID: 25425461Free PMC Article
Xiao J, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, Zhao Y, LeDoux MS
BMC Med Genet 2009 Mar 11;10:24. doi: 10.1186/1471-2350-10-24. PMID: 19284587Free PMC Article

Therapy

Costantini A, Trevi E, Pala MI, Fancellu R
BMJ Case Rep 2016 Jul 22;2016 doi: 10.1136/bcr-2016-216721. PMID: 27448549Free PMC Article
Camargos S, Lees AJ, Singleton A, Cardoso F
J Neurol Neurosurg Psychiatry 2012 Oct;83(10):1012-4. Epub 2012 Jul 28 doi: 10.1136/jnnp-2012-302841. PMID: 22842711Free PMC Article

Clinical prediction guides

Costantini A, Trevi E, Pala MI, Fancellu R
BMJ Case Rep 2016 Jul 22;2016 doi: 10.1136/bcr-2016-216721. PMID: 27448549Free PMC Article
Egidi M, Franzini A, Marras C, Cavallo M, Mondani M, Lavano A, Romanelli P, Castana L, Lanotte M; Functional Neurosurgery Study Group of the Italian Society of Neurosurgery.
J Neurosurg Sci 2007 Dec;51(4):153-8. PMID: 18176524

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