Dystonia

INDEX

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GENE -PROTEIN
DYT
name
PROPOSED
NAME
Inheritance
Description of clinical features
Inherited isolated dystonia syndrome
TOR1A-torsinA
DYT1
DYT-TOR1A
AD
 
Early-onset generalized dystonia
 

TUBB4-tubulin beta 4A class IVa
DYT4
DYT-TUBB4A
AD
Rare dystonia, often with laryngeal and cranial-cervical
onset

THAP1-THAP domain containing
apoptosis-associated protein 1
DYT6
DYT-THAP1
AD
Adolescent-onset dystonia, mixed phenotype
Spasmodic dysphonia and prominent craniocervical
involvement
ANO3-anoctamin 3
DYT24
DYT-ANO3
AD
Adult-onset craniocervical dystonia

GNAL-guanine nucleotide-binding
protein subunit alpha L
DYT25
DYT-GNAL
AD
Adult-onset cervical (segmental) dystonia, often with
prominent tremor

KMT2B-lysine-specific histone
methyltransferase 2B
 
DYT28
DYT-KMT2B
AD
Early-onset, progressive disease course evolving from
lower-limb focal dystonia into generalized dystonia with
prominent cervical, cranial, and laryngeal involvement

PANK2-pantothenate kinase 2
 
PKAN
AR
Dystonia with onset in childhood or adolescence,
combined dysarthria, rigidity, pyramidal signs and
cognitive impairment
 
 
 
 
 
 
 
 
 
Inherited combined dystonias disorders where dystonia frequently
coexists with other movement disorders:
 
 
 
 
Parkinsonism
Myoclonus
Paroxysmal Dyskinesia
Chorea
 
GENE -PROTEIN
DYT
name
PROPOSED
NAME
Inheritance
Description of clinical features
GCH1-GTP cyclohydrolase 1
DYT5a
DYT-PARK-CGH1
AD
Childhood- or young adult-onset dopa-responsive dystonia
with parkinsonism and diurnal fluctuation.
Mild and severe forms exist.
Phenotype of paroxysmal exercise-induced dyskinesia may
be seen
TH-tyrosine hydroxylase
DYT5b
DYT-PARK-TH
AR
Milder form of dopa-responsive dystonia with infantile or
early childhood onset.
Severe and very severe forms exist.
SPR-Sepiapterin reductase
Not
assigned
DYT-SPR
AR
 
TAF1-TATA box-binding
protein-associated factor 1
DYT3
DYT-PARK-TAF1
X-linked
recessive
Segmental or generalized dystonia with marked
oromandibular involvement and parkinsonism
unresponsive to levodopa. Endemic in Panay, Philippines,
where it is known as Lubag
ATP1A3-ATPase Na + -K +
transporting subunit alpha 3
DYT12
DYT-PARK-ATP1A3
AD
Rapid-onset dystonia-parkinsonism
Also causes alternating hemiplegia of childhood.
PLA2G6 -A2 phospholipase
PARK14
PLAN
AR
Dystonia often combined with chorea, parkinsonism,
dementia, pyramidal signs and psychiatric features
PRKRA - Protein kinase, interferon-
inducible double-stranded RNA-
dependent activator
 
DYT16
DYT-PRKRA
AR
Dystonia with mild parkinsonism
SGCE-epsilon-sarcoglycan
DYT11
DYT-SGCE
AD
Myoclonus dystonia
PRRT2-proline-rich transmembrane
protein 2
ADCY5- adenylate cyclase 5
DYT10
 
 
PxMD-PRRT2
 
 
AD
 
 
Paroxysmal kinesigenic dyskinesia 1
 
 
 
SCN8A
 
DYT10
PxMD-PRRT2
AD
Paroxysmal kinesigenic dyskinesia 1
MR1-myofibrillogenesis regulator 1
PRRT2-proline-rich transmembrane
protein 2
SLC2A1-glucose transporter protein
type 1
ATP1A3
 
DYT8
PxMD-PNKD
AD
Paroxysmal nonkinesigenic dystonia
SLC2A1-glucose transporter protein
type 1
ECHS1- short-chain enoyl-CoA
hydratase protein (Leigh syndrome)
GCH1-GTP cyclohydrolase 1
PRRT2-proline-rich transmembrane
protein 2
ATP1A3
DYT18 -
DYT9
PxMD-SLC2A1
 
Paroxysmal exertion induced dyskinesia
Complex dystonia
GENE -PROTEIN
DYT
name
PROPOSED
NAME
Inheritance
Description of clinical features
NKX2.1 -homeobox protein Nkx-2.1
Not
assigned
CHOR-NKX2-1
 
Onset with chorea which can be replaced by a myoclonus
dystonia phenotype during the disease course
N -A (ADCY5 -adenylate cyclase 5
Not
assigned
CHOR-DYT-ADCY5
 
Varied phenotype, including childhood-onset paroxysmal
or persistent chorea and dystonia
Lesch-Nyhan syndrome
Not
assigned
DYT -CHOR-HPRT
AR
Dystonia, chorea, occasionally ballism.
Additional clinical features: hyperuricemia, crystalluria,
developmental delay -intellectual disability, eye movement
 
abnormalities, spasticity, compulsive self-injurious
behaviour, gouty arthritis, nephrolithiasis, renal failure
Mitochondrial acetoacetyl-CoA
thiolase deficiency
Not
assigned
DYT -CHOR-ACAT1
AR
Metabolic decompensation and basal ganglia
injury during acute stress resulting in dystonia and chorea
Glutaric aciduria type:
Not
assigned
DYT -CHOR-GCDH
AR
Dystonia, chorea (usually following acute metabolic crises),
parkinsonism (later) Additional clinical features: acute
metabolic crises with basal ganglia injury (predominantly
putamen and caudate nucleus), severe truncal hypotonia,
macrocephaly, orofacial dyskinesias, spasticity, cognitive
impairment (variable), enlarged subdural space, subdural
hygroma -hemorrhages, headaches, seizures
Methylmalonic aciduria
Not
assigned
DYT -CHOR-MUT
AR
Dystonia, chorea (usually following acute metabolic crises),
parkinsonism (later) Additional clinical features: acute
metabolic crises with basal ganglia injury (predominantly
putamen and caudate nucleus), severe truncal hypotonia,
macrocephaly, orofacial dyskinesias, spasticity, cognitive
impairment (variable), enlarged subdural space, subdural
hygroma -hemorrhages, headaches, seizures
Propionic aciduria
 
DYT -CHOR-PCCA -
PCCB
AR
Dystonia, occasionally chorea.
Additional clinical features: neonatal-onset vomiting,
seizures, lethargy and hypotonia, ketoacidosis,
hyperammonemia, developmental delay, spasticity,
cardiomyopathy, acute metabolic crises
with confusion -encephalopathy, basal ganglia injury
(predominantly putamen and caudate nucleus)
 
 
 
 
 

 

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References