DYT1, DYT3, DYT5, DYT6, DYT12, DYT28 - Phenomneology Atlas
DYT1 Dystonia
C12c1 (Video 12.1): DYT1 Writer's Cramp and Postural Arm Dystonia
Young boy with right upper limb dystonia characterized by ulnar deviation of the hand, dystonic posturing during wingbeat position, task-specific writer's cramp, and dystonic activation during pouring tasks.
C12c2 (Video 12.2): DYT1 Writer's Cramp with Mirror Dystonia
Right wrist dystonia and severe writer's cramp accompanied by mirror dystonia triggered by writing or even imagining writing with the opposite hand.
C12c3 (Video 12.3): Mild Upper-Limb DYT1 Dystonia
Subtle postural dystonia of the right hand with thumb-index finger writer's cramp and associated mirror dystonic movements.
C12c4 (Video 12.4): DYT1 Foot Dystonia
Severe dystonic plantarflexion and toe flexion of the right foot causing marked gait impairment and fixed abnormal posture.
C12c5 (Video 12.5): DYT1 Leg Dystonia with State Function Phenomenon
Walking-induced inversion and plantarflexion dystonia improving during running and backward walking.
C12c6 (Video 12.6): Lower Extremity DYT1 Dystonia
Complex gait dystonia with ankle and knee flexion triggered during walking and improved with backward gait.
C12c7 (Video 12.7): Severe Generalized Childhood-Onset DYT1 Dystonia
Rapidly progressive generalized dystonia with prominent opisthotonus successfully treated with bilateral GPi deep brain stimulation.
C12c8 (Video 12.8): Chronic Upper-Limb DYT1 Dystonia
Longstanding left arm dystonia with null point phenomenon, dystonic tremor, severe writer's cramp, and preserved gait.
C12c9 (Video 12.9): Hemidystonic DYT1 Phenotype
Right-sided arm and leg dystonia with null point behavior, mirror dystonia, and dramatic improvement after GPi DBS.
C12c10 (Video 12.10): Early DYT1 Dystonia
Childhood-onset writer's cramp and gait-induced lower extremity dystonia improved by running and backward walking.
C12c11 (Video 12.11): DYT1 Dystonia with Adductor Dysphonia
Writer's cramp associated with spasmodic dysphonia and mild postural upper-limb dystonia.
C12c12 (Video 12.12): Progressive DYT1 Foot Dystonia
Severe lower-limb dystonia and writer's cramp markedly improved with trihexyphenidyl and later GPi DBS.
C12c13 (Video 12.13): Dystonic Storm in DYT1
Severe generalized dystonia with retrocollic arching, initially misdiagnosed as functional, subsequently improved after DBS.
C12c14 (Video 12.14): Adult DYT1 Dystonia with Camptocormia
Generalized dystonia with spasmodic dysphonia, sensory tricks, upper-limb dystonia, and classic “dromedary gait.”
C12c15 (Video 12.15): Severe DYT1 Dystonia with Dystonic Storm
Childhood generalized dystonia complicated by DBS infection, hardware removal, and recurrent dystonic storm.
C12c16 (Video 12.16): Familial DYT1 Dystonia
Multigenerational DYT1 dystonia characterized by arm tremor, severe writer's cramp, truncal dystonia, and gait abnormalities.
DYT3 (X-Linked Dystonia-Parkinsonism)
C12c17 (Video 12.17): DYT3 Dystonia-Parkinsonism
Blepharospasm, torticollis, left upper limb tremor, and superimposed parkinsonian features in a Filipino patient.
C12c18 (Video 12.18): DYT3 with Medication Wearing-Off
Reemergence of hand dystonia and eyelid-opening apraxia several hours after trihexyphenidyl dosing.
C12c19 (Video 12.19): DYT3 Cervical Dystonia
Rightward torticollis and laterocollis demonstrating benefit from a sensory trick.
C12c20 (Video 12.20): Parkinsonian Phase of DYT3
Predominantly symmetric akinetic-rigid parkinsonism with minimal residual dystonia.
Dopa-Responsive Dystonia (DYT5)
C12c21 (Video 12.21): Classic Dopa-Responsive Dystonia
Lower-extremity dystonia with diurnal fluctuation showing complete resolution after levodopa treatment.
C12c22 (Video 12.22): DYT5 Mimicking Spastic Diplegia
Scissoring dystonic gait dramatically responsive to low-dose levodopa.
C12c23 (Video 12.23): Treated DYT5
Normal neurological examination following levodopa initiation in genetically confirmed disease.
C12c24 (Video 12.24): Early Dopa-Responsive Dystonia
Subtle gait stiffness and hyperreflexia improving with very low-dose levodopa.
C12c25 (Video 12.25): Adult Manifestation of DYT5
Mild spastic gait and tremor despite treatment.
C12c26 (Video 12.26): Cervical and Limb Dopa-Responsive Dystonia
Torticollis and writer's cramp demonstrating classic sensory tricks.
DYT6 Dystonia
C12c27 (Video 12.27): DYT6 with Cranial Involvement
Speech-induced cranial dystonia associated with task-specific writer's cramp.
C12c28 (Video 12.28): Advanced DYT6 Dystonia
Complex cranio-cervical dystonia with prominent sensory tricks and task-induced arm dystonia.
DYT12 (Rapid-Onset Dystonia-Parkinsonism)
C12c29 (Video 12.29): Juvenile Rapid-Onset Dystonia-Parkinsonism
Generalized bradykinesia, hypophonia, limb dystonia, and spastic gait.
C12c30 (Video 12.30): Progressive DYT12
Asymmetric parkinsonism evolving into combined dystonia-parkinsonism over years.
C12c31 (Video 12.31): Levodopa-Responsive DYT12 Phenotype
Mixed dystonia and parkinsonism with partial improvement in speech, gait, and limb function.
C12c32 (Video 12.32): Advanced DYT12 Syndrome
Severe dysarthria, bulbar dystonia, parkinsonism, and prominent upper-limb posturing.
C12c33 (Video 12.33): DYT12 with Oculogyric Crisis
Painful dystonic attacks and sustained upgaze episodes dramatically responsive to levodopa.
DYT28 (KMT2B Dystonia)
C12c34 (Video 12.34): Early DYT28 Dystonia
Writer's cramp and gait-induced generalized dystonia improving during running and skipping.
C12c35 (Video 12.35): DYT28 with Autism Spectrum Disorder
Severe generalized dystonia, spasticity, and scissoring gait associated with SHANK-related neurodevelopmental disease.