Myoclonus-Dystonia

masquerading as Wilson
Regina
Regina Druta
Druta
Dr.
Dr. primar
primar Alina
Alina Druta
Druta
Universitatea
Universitatea de
de Medicina
Medicina si
si Farmacie
Farmacie “Carol
“Carol Davila”
Davila”

ABSTRACT
ABSTRACT RESULTS
RESULTS

Background: Myoclonus-dystonia is a movement disorder that Diagnosis is based on the presence of characteristic clinical
typically affects the neck, torso, and arms. Individuals with this symptoms. Neuroimaging studies are normal. Genetic molecular
condition experience quick, involuntary muscle jerks or twitches testing can confirm the diagnosis.
(myoclonus). About half of individuals with myoclonus- The only known causative gene of MDS is the epsilon-sarcoglycan
dystonia develop dystonia, which is involuntary tensing of various (SGCE) gene (7q21.3), encoding a transmembrane protein that is
muscles that causes unusual positioning. In myoclonus-dystonia, part of the dystrophin-associated glycoprotein complex found in
dystonia often affects one or both hands, causing writer's cramp, skeletal and cardiac muscle. The epsilon-sarcoglycan protein is
or the neck, causing the head to turn (torticollis). also abundant in monoaminergic neurons, cerebellar
Case report: A 26-year-old man consulted his doctor because of Purkinje cells, the cortex and the hippocampus of the brain.
involuntary movement of the eyeball and involuntary muscular MDS is inherited in an autosomal dominant manner. However,
contractions on the left side of the body. It progressed to the SGCE gene is maternally imprinted, therefore in most cases
involuntary movement of the neck (torticollis) and left arm. (95%) a patient who inherits the mutation from their mother will
Postural tremor is also present in the left arm. remain healthy and only those that inherit the mutation from their
The laboratory results showed slighty diminished ceruloplasmin father will develop MDS. De novo mutations also occur. Genetic
enzyme and blood copper, but the urine copper was three times counseling is recommended in those with a known mutation.
higher than normal. The patient has been suspected of Wilson’s
disease but the genetic test came out negative and treatment CONCLUSIONS
CONCLUSIONS
with cuprinil has been ineffective. The patient also tried taking
Isicom (levodopa), Romparkin (central anticholinergic), Treatment plans are individualized to a patient's presenting
Haloperidol (neuroleptic) with no benefit. symptoms. Benzodiazepines (clonazepam) and antiepileptic drugs
In 2014 he suffered a surgery for herniated disc C5-C6 with no (valproate, levetiracetam) are effective in relieving myoclonus and
symptom improvement. tremor, but patients should be carefully monitored. Similarly,
The cerebral MRI and electromyography has shown no alcohol frequently improves symptoms temporarily, but its long
significant changes. term use is not recommended. Injections of botulinum toxin can
The Wilson disease diagnosis can be excluded, but to confirm relieve focal and cervical dystonia.
Myoclonus dystonia, it’s needed to make another genetic If these treatments fail or are insufficient, bilateral deep brain
molecular testing for SGCE. This gene translates a stimulation (DBS) of the internal globus pallidum (Gpi) and the
transmembrane protein in the dystrophin associated glycoprotein central intermediate nucleus (VIM) of the thalamus have shown
complex found in skeletal muscle and neurons. positive results in providing lasting relief from both myoclonus and
If the test is positive, the most effective treatment would be a dystonia. Gpi stimulation is often sufficient in treating MDS, and
surgical intervention of Deep Brain Stimulation (DBS) in internal may be favored over VIM stimulation, which generally has very
globus pallidus and the central intermediate nucleus of the little effect on dystonia. In a staged surgical procedure, quadruple
thalamus, which can cure both the myoclonus and dystonia. stimulation (VIM and Gpi) may also be considered in selected
Conclusion: This case illustrates the difficulty of assigning a cases.
clear diagnosis regarding dystonia and the complexity of No major adverse effects were noticed. Improvements in motor
etiologies. Nonetheless, a correct diagnosis and treatment can symptoms are consistent with reports in the literature and can be
improve the patient’s life quality substantially. obtained regardless of the identification of a SGCE gene mutation.
There were also significant benefits on disability and quality of life.
BACKGROUND
BACKGROUND AND
AND AIM
AIM DBS should be considered for MD.

METHODS
METHODS AND
AND MATERIALS
MATERIALS

A 26-year-old man consulted his doctor because of involuntary

movement of the eyeball and involuntary muscular contractions on
the left side of the body. It progressed to involuntary movement of
the neck (torticollis) and left arm. Postural tremor is also present in
the left arm.
Myoclonus dystonia syndrome (MDS) refers to a group of The laboratory results showed slighty diminished ceruloplasmin
heterogeneous nondegenerative clinical conditions enzyme and blood copper, but the urine copper was three times
characterized by the association of myoclonus and dystonia as higher than normal. The patient has been suspected of Wilson’s
the only or prominent symptom. disease but the genetic test came out negative and treatment with
cuprinil has been ineffective. The patient also tried taking Isicom
Disease onset usually occurs in the first or second decade of life.
(levodopa), Romparkin (central anticholinergic), Haloperidol
Myoclonus is usually the presenting manifestation and is
(neuroleptic) with no benefit.
described as swift ''lightning-like'' jerks that can rarely appear at
rest but that are usually triggered by complex motor tasks such The cerebral MRI and electromyography has shown no significant
as drawing and writing. These movements mainly affect the changes.
neck, arms and trunk but can also rarely be seen in the legs or
the larynx. In two thirds of cases, dystonia is also experienced in REFERENCES
REFERENCES
the form of focal or cervical dystonia, which may be only mild
and does not exacerbate with time. Postural and other forms of 1. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally
imprinted". Eur. J. Hum. Genet.
tremor have sometimes been reported. MDS is often associated 2. Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. Mov
with depression, anxiety, panic attacks, obsessive-compulsive Disord. 2008
3. Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. J Neurol Neurosurg Psychiatry. 2009
behavior and personality disorders and alcohol abuse. 4. "Uncommon Applications of Deep Brain Stimulation in Hyperkinetic Movement Disorders". Tremor and Other
Hyperkinetic Movements.

Presented
Presented at
at the
the 7th
7th International
International Medical
Medical Congress
Congress of
of Students
Students and
and Young
Young Doctors
Doctors MedEspera
MedEspera
May
May 33 –– 5,
5, 2018
2018 ,, Chisinau,
Chisinau, Republic
Republic of
of Moldova
Moldova