Dystonia is perhaps the most complicated neurological disorder. For one, even the term dystonia is difficult to define. It combines fixed postures and abnormal movements, all in one. Terms like twisting and torsion come up regularly in the language of dystonia.

Twisting. Jano de Cesare on Flikr. https://www.flickr.com/photos/janodecesare/2982063799

Dystonia was therefore a challenge for neurochecklists. But building from the basic elements, neurochecklists has constructed simple, comprehensive, and practical checklists covering all aspects of dystonia.

By Lindsay Hanford, Geoff B Hall – Own work, CC0, Link

The Dystonia section of neurochecklists starts off with the essential clinical aspects of the disorder:

Dystoniaclassifications
Dystonia: medical causes
Dystonia: GENETIC causes
Dystoniaclinical features
Dystoniadifferential diagnosis
Dystoniainvestigations
Dystoniadrug treatments
Dystonia: OTHER treatments
DNA double helix. NIH Library on Flikr. https://www.flickr.com/photos/nihgov/20468181866

This is followed by detailed checklists on the hereditary or Primary Dystonias. The dystonia genes are labelled DYT, and there are now 28 DYT genes! And watch out for the DYT gene which doesn’t really exist!

DYT1: Early onset primary dystonia
DYT2: Autosomal recessive torsion dystonia
DYT3: X-linked dystonia (Lubag)
DYT4: Whispering dysphonia
DYT5: Dopa-responsive dystonia (DRD)
DYT6: Adult onset mixed torsion dystonia
DYT7: Focal adult onset torsion dystonia
DYT8: Paroxysmal non-kinesigenic dyskinesia 1 (PNKD1)
DYT9: Choreoathetosis/spasticity, episodic (CSE)
DYT10: Paroxysmal kinesigenic dyskinesia 1 (PKD1)
DYT11: Myoclonus dystonia
DYT12: Rapid onset dystonia-parkinsonism (RDP)
DYT13: Familial cranio-cervical dystonia
DYT14: Dystonia 14
DYT15: Myoclonic dystonia 15
DYT16: Autosomal recessive dystonia-parkinsonism
DYT17: early onset autosomal recessive dystonia
DYT18: Paroxysmal exercise-induced dyskinesia (PED)
DYT19: Paroxysmal kinesigenic dyskinesia 2 (PKD2)
DYT20: Paroxysmal non-kinesigenic dyskinesia 2 (PNKD2)
DYT21: Late onset dystonia
DYT22: Dystonia 22
DYT23: Dystonia 23
DYT24: Dystonia 24
DYT25: Cervical dystonia with local spread 
DYT26: Myoclonic dystonia 26
DYT27: Dystonia 27
DYT28: Dystonia 28
By Wuerdelos – Own work, CC BY-SA 4.0, Link

The primary dystonias are then followed by a wide spectrum of disorders that come under the remit of Dystonia:

Cervical dystonia
Hemifacial spasm
Benign essential blepharospasm (BEB)
Meige syndrome
Oromandibular dystonia
Lingual dystonia
Acute dystonic reaction
Tardive dystonia
Task specific dystonias
March: Twisting Fabric. Laura Loveday on Flikr. https://www.flickr.com/photos/likeabalalaika/4483975188

Intermixed with the common are the rarer but still familiar dystonia syndromes such as

Wilson’s disease
Neuroferritinopathy
Neuroacanthocytosis
By Herbert L. Fred, MD, Hendrik A. van Dijk – http://cnx.org/content/m15007/latest/, CC BY 3.0, Link

The checklists, of course, also cover the uncommon and the rare, including conditions that come under the remit of Neurodegeneration with brain iron accumulation (NBIA) such as:

Pantethonate kinase associated neurodegeneration (PKAN)
Aceruloplasminaemia
Kufor-Rakeb
Woodhouse-Sakati syndrome
Mitochondrial membrane protein-associated neurodegeneration (MPAN)
Twisting steel bridge, Vlaardingen [the Netherlands]. Pieter van Marion on Flikr. https://www.flickr.com/photos/stmaartenpiloot/3778523580

 And we round up with a miscellany of rare dystonias such as:

HYPERmanganesAeMIA WITH DYSTONIA
Tyrosine hydroxylase deficiency (THD)
Sepiapterin reductase deficiency
Alternating hemiplegia of childhood
Dystonia deafness syndromes
Paroxysmal autonomic instability with dystonia (PAID)

Where do you want to start? Go on, explore!

By Egon Schiele – repro from artbook, Public Domain, Link



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