Myoclonus: A diagnostic challenge

Rodi Zutt

Myoclonus: A diagnostic challenge

Rodi Zutt

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Myoclonus is een frequent voorkomende hyperkinetische bewegingsstoornis die wordt gekenmerkt door spierschokken (positieve myoclonus) en/of het kortdurend wegvallen van de spiertonus (negatieve myoclonus). De klinische presentatie van myoclonus is heel divers. De schokken kunnen in één of meerdere lichaamsdelen optreden of gegeneraliseerd zijn. Myoclonus kan optreden in het gelaat, de nek, romp en de ledematen. Het kan in rust of juist bij actie optreden en wel of niet stimulusgevoelig zijn. Over het algemeen belemmert myoclonus patiënten ernstig in hun dagelijks functioneren, zoals bij eten/drinken, schrijven en lopen. Myoclonus heeft vele oorzaken, zowel verworden als genetisch. Voor het vaststellen van de onderliggende oorzaak en het bepalen van de juiste behandeling is het belangrijk myoclonus te herkennen en te onderscheiden van andere bewegingsstoornissen zoals bijvoorbeeld tremor en chorea. Na het herkennen kan myoclonus op basis van een anatomische classificatie worden ingedeeld in subtypes, i.e. naar de plaats in het zenuwstelsel waar de schokken ontstaan. Dit zijn corticale (hersenschors), subcorticale (diepe hersenkernen/hersenstam), spinale (ruggenmerg) en perifere (zenuwen/spieren) myoclonus. Daarnaast kunnen schokken ook een uiting zijn van een functionele (psychogene) stoornis. Door myoclonus naar anatomische classificatie te groeperen kan diagnostiek gericht ingezet worden. Dit proefschrift biedt een nieuw diagnostische aanpak voor patiënten met myoclonus. Het beschrijft de uitdagingen en het belang van het nauwkeurig klinisch fenotyperen van zowel motorische als niet-motorische symptomen en de classificatie van het anatomisch myoclonus subtype. Het klinisch neurofysiologisch onderzoek heeft een belangrijke toegevoegde waarde naast de klinische beoordeling in de (sub)classificatie van myoclonus.

Originele taal-2	English
Kwalificatie	Doctor of Philosophy
Toekennende instantie	Rijksuniversiteit Groningen
Begeleider(s)/adviseur	de Koning-Tijssen, Marina, Supervisor de Koning, Tom, Co-supervisor Elting, Jan Willem, Co-supervisor
Datum van toekenning	7-feb.-2018
Plaats van publicatie	[Groningen]
Uitgever	Rijksuniversiteit Groningen
Gedrukte ISBN's	978-94-034-0383-0
Elektronische ISBN's	978-94-034-0382-3
Status	Published - 2018

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Title and contentsFinal publisher's version, 169 KB
Chapter 1Final publisher's version, 5,04 MB
Chapter 2Final publisher's version, 8,61 MB
Chapter 2AFinal publisher's version, 5,14 MB
Chapter 3Final publisher's version, 4,88 MB
Chapter 4Final publisher's version, 4,62 MB
Chapter 5Final publisher's version, 5,12 MB
Chapter 6Final publisher's version, 6 MB
Chapter 7Final publisher's version, 4,76 MB
Chapter 8Final publisher's version, 4,62 MB
Chapter 9Final publisher's version, 4,58 MB
Chapter 10Final publisher's version, 4,54 MB
Chapter 11Final publisher's version, 5,21 MB
Complete thesisFinal publisher's version, 17,3 MB
PropositionsFinal publisher's version, 1,04 MB

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@phdthesis{5001c9ade831492584ce44124dfb6738,

title = "Myoclonus: A diagnostic challenge",

abstract = "Myoclonus is a frequently encountered hyperkinetic movement disorder characterized by involuntary jerks, or short interruptions of muscle tone.1 Myoclonus can be anatomically classified into cortical, subcortical, spinal, and peripheral myoclonus2, as well as forming a component of functional movement disorders.3,4 Myoclonus can be present in a large number of both acquired and genetically determined disorders. Accurate diagnosis and classification of its anatomical subtype is important in determining an aetiological differential diagnosis, and guiding therapeutic management. However, clinical diagnosis of myoclonus remains challenging due to its manifestation in a large number of clinical phenotypes, and the number of causative disease causing genes increasing year on year. These challenges and opportunities reinforce the need for a novel and systematic approach to those patients presenting with myoclonus. This thesis provides a new diagnostic approach for patients who present with myoclonus. We describe the challenges and importance of accurate clinical phenotyping, classification of the anatomical myoclonus subtype, and recognition of the frequently accompanying non-motor characteristics. Electrophysiological testing including video-polymyography and advanced techniques (e.g. back-averaging and coherence analysis) proved to play an important contributing role in determining an accurate diagnosis. These, together with the development and wider application of ERD may also demonstrate future applicability in the diagnosis of highly complex hyperkinetic movement disorders, and in particular functional movement disorders.",

author = "Rodi Zutt",

year = "2018",

language = "English",

isbn = "978-94-034-0383-0",

publisher = "Rijksuniversiteit Groningen",

school = "University of Groningen",

}

TY - BOOK

T1 - Myoclonus

T2 - A diagnostic challenge

AU - Zutt, Rodi

PY - 2018

Y1 - 2018

N2 - Myoclonus is a frequently encountered hyperkinetic movement disorder characterized by involuntary jerks, or short interruptions of muscle tone.1 Myoclonus can be anatomically classified into cortical, subcortical, spinal, and peripheral myoclonus2, as well as forming a component of functional movement disorders.3,4 Myoclonus can be present in a large number of both acquired and genetically determined disorders. Accurate diagnosis and classification of its anatomical subtype is important in determining an aetiological differential diagnosis, and guiding therapeutic management. However, clinical diagnosis of myoclonus remains challenging due to its manifestation in a large number of clinical phenotypes, and the number of causative disease causing genes increasing year on year. These challenges and opportunities reinforce the need for a novel and systematic approach to those patients presenting with myoclonus. This thesis provides a new diagnostic approach for patients who present with myoclonus. We describe the challenges and importance of accurate clinical phenotyping, classification of the anatomical myoclonus subtype, and recognition of the frequently accompanying non-motor characteristics. Electrophysiological testing including video-polymyography and advanced techniques (e.g. back-averaging and coherence analysis) proved to play an important contributing role in determining an accurate diagnosis. These, together with the development and wider application of ERD may also demonstrate future applicability in the diagnosis of highly complex hyperkinetic movement disorders, and in particular functional movement disorders.

AB - Myoclonus is a frequently encountered hyperkinetic movement disorder characterized by involuntary jerks, or short interruptions of muscle tone.1 Myoclonus can be anatomically classified into cortical, subcortical, spinal, and peripheral myoclonus2, as well as forming a component of functional movement disorders.3,4 Myoclonus can be present in a large number of both acquired and genetically determined disorders. Accurate diagnosis and classification of its anatomical subtype is important in determining an aetiological differential diagnosis, and guiding therapeutic management. However, clinical diagnosis of myoclonus remains challenging due to its manifestation in a large number of clinical phenotypes, and the number of causative disease causing genes increasing year on year. These challenges and opportunities reinforce the need for a novel and systematic approach to those patients presenting with myoclonus. This thesis provides a new diagnostic approach for patients who present with myoclonus. We describe the challenges and importance of accurate clinical phenotyping, classification of the anatomical myoclonus subtype, and recognition of the frequently accompanying non-motor characteristics. Electrophysiological testing including video-polymyography and advanced techniques (e.g. back-averaging and coherence analysis) proved to play an important contributing role in determining an accurate diagnosis. These, together with the development and wider application of ERD may also demonstrate future applicability in the diagnosis of highly complex hyperkinetic movement disorders, and in particular functional movement disorders.

M3 - Thesis fully internal (DIV)

SN - 978-94-034-0383-0

PB - Rijksuniversiteit Groningen

CY - [Groningen]

ER -

Myoclonus: A diagnostic challenge

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