HWN Suggests

The Connection Between Dystonia & Myoclonus

Common forms of dystonia include cervical dystonia (dystonia of the neck), hand dystonia, (writer’s cramp), generalized dystonia (twisting of the limbs and torso). The causes of various forms of dystonia are unknown, but trauma, genetics, and reactions to certain medications can develop the onset of dystonia. People with myoclonus-dystonia often develop psychological disorders such as depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD).

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Articles of Interest

Myoclonus (Muscle Twitch)

Myoclonus refers to sudden, brief involuntary twitching or jerking of a muscle or group of muscles. The twitching cannot be stopped or controlled by the person experiencing it. Myoclonus is not a disease itself, rather it describes a clinical sign.

Myoclonus-dystonia used to limit all my activities, but now I can imagine a future

Myoclonus-dystonia (MD) is a neuronal movement disorder characterised by short muscle contractions (myoclonus) and/or repetitive movements that result in abnormal postures (dystonia).

A Case of Myoclonus–Dystonia Responding to Low-frequency Pallidal Stimulation

Low-frequency pallidal stimulation provides an effective means of treating various dystonias, regardless of genetic status, as in our case, as it provides increased programming options with fewer adverse effects.

Delayed diagnoses of SGCE myoclonus-dystonia

Myoclonus-dystonia due to SGCE mutations (OMIM: 159900) most commonly presents during childhood with mainly upper body myoclonus, and mild dystonia affecting the neck and arms.

Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study

Myoclonus–dystonia (M–D) is a young onset movement disorder typically involving myoclonus and dystonia of the upper body. A proportion of the cases are caused by mutations to the autosomal dominantly inherited, maternally imprinted, epsilon-sarcoglycan gene (SGCE). Despite several sets of diagnostic criteria, identification of patients most likely to have an SGCE mutation remains difficult.

Myoclonus-dystonia: An under-recognized entity

A diagnosis of myoclonus-dystonia should be considered in cognitively normal patients with early-onset myoclonus (that may occur both at rest and/or action) with or without dystonia and with or without psychiatric-disturbances.

Myoclonus–Dystonia Syndrome: Clinical Presentation, Disease Course, and Genetic Features in 11 Families

Myoclonus– dystonia syndrome (MDS) is an inherited movement disorder with onset in childhood or adolescence. It is characterized by myoclonic jerks and dystonia in variable combination, usually being myoclonus the predominant and most disabling symptom.

Primary Myoclonus-Dystonia: A Diagnosis Often Missed in Children

In this report, the authors highlight the need for increased awareness of this entity among child neurologists.

The Neurophysiological Features of Myoclonus-Dystonia

Myoclonus-dystonia is a movement disorder characterized by a combination of rapid, brief muscle contractures and sustained repetitive movements resulting in abnormal postures. Loss-of-function mutations or deletions in the ε-sarcoglycan (SGCE) gene on chromosome 7 have been implicated in 50% of the cases

The Neurophysiological Features of Myoclonus-Dystonia and Differentiation From Other Dystonias

The present results further support that a dysfunction of the cerebellum participates in the pathophysiology of dystonia irrespective of the type (sporadic focal dystonia, DYT1 generalized dystonia, or DYT11 M-D). In keeping with this model, the severity and location of cerebellar dysfunction might account for the different phenotypes.

Resources

Dystonia UK

Myoclonus dystonia is a neurological movement disorder characterised by the combination of dystonia (continuous or intermittent muscle contractions which cause abnormal, often painful, repetitive movements) usually in the arms, trunk, and neck with myoclonus. Myoclonus is the term used to describe brief ‘lightning-like’ jerks by the body. The term is the description of a symptom not an underlying condition and myoclonus has several different causes. For instance, many people may occasionally experience a myoclonic jerk when falling asleep.

DoveMed

Myoclonus-Dystonia Syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. Disease onset usually occurs in the first or second decade of life

GARD

Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.