Table 2.

Autosomal Dominant Disorders to Consider in the Differential Diagnosis of DYT-GNAL

DisorderGeneClinical Features of Disorder That Overlap w/DYT-GNALFurther Details of This Disorder
Age at onset of dystoniaSite of dystonia at onsetDystonia typeOther
DYT-THAP1 THAP1 Craniocervical dystonia &/or laryngeal involvement may be presenting feature(s).
  • Median: 13 yrs (range: 2-49 yrs) 1
  • Median: 13 yrs (range 2-62 yrs) 2
  • Mean: 48 yrs (range: 8-69 yrs) 3
Cervical & laryngeal; upper limbCraniocervical involvement commonPenetrance of ~60%
DYT-TOR1A TOR1A Isolated blepharospasm or craniocervical dystonia in some
  • Mean:14 yrs (range 4-44 yrs) 4
  • Early onset, typically childhood; late onset in some
Typically in 1 limb
  • 60% to 70% progress to generalized (or multifocal) dystonia. 5
  • ~20% have focal dystonia, most frequently writer's cramp.
DYT-SGCE
(see Myoclonus-Dystonia)		 SGCE
  • Cervical dystonia 6
  • Myoclonic jerks typical of DYT-SGCE have been described in DYT-GNAL. 7
1st or 2nd decadeNeck, proximal arm, trunkMyoclonic jerks of mostly proximal muscles, typically cervical dystonia & writer's cramp
  • Action-induced, alcohol-responsive myoclonic jerks
  • Psychiatric features common (incl alcohol dependence)
DYT-ANO3 ANO3
  • Adult-onset craniocervical dystonia
  • Laryngeal dystonia
  • Upper-limb dystonia (incl arm tremor)
Early childhood to 6th decade (typically adult onset)Mostly craniocervicalSegmental/multifocal (craniocervical dystonia, head tremor, upper-limb dystonia, dystonic arm tremor, laryngeal dystonia)Most have dystonic tremor.
1.

Bressman et al [2009]; patients with familial dystonia

2.
3.

Xiao et al [2010]; cohort consisted mainly of individuals with late-onset focal dystonia (n = 1,210).

4.
5.
6.

Cervical dystonia may be the only presentation in DYT-SGCE.

7.

From: DYT-GNAL

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