Myoclonus-Dystonia
masquerading as Wilson
Regina
Regina Druta
Druta
Dr.
Dr. primar
primar Alina
Alina Druta
Universitatea
Universitatea de
de Medicina
Medicina si
si Farmacie
ABSTRACT
ABSTRACT
Background: Myoclonus-dystonia is a movement disorder that
typically affects the neck, torso, and arms. Individuals with this
condition experience quick, involuntary muscle jerks or twitches
(myoclonus). About half of individuals with myoclonus-
dystonia develop dystonia, which is involuntary tensing of various
muscles that causes unusual positioning. In myoclonus-dystonia,
dystonia often affects one or both hands, causing writer's cramp,
or the neck, causing the head to turn (torticollis).
Case report: 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.
The laboratory results showed slighty diminished ceruloplasmin
enzyme and blood copper, but the urine copper was three times
higher than normal. The patient has been suspected of Wilson’s
disease but the genetic test came out negative and treatment
with cuprinil has been ineffective. The patient also tried taking
Isicom (levodopa), Romparkin (central anticholinergic),
Haloperidol (neuroleptic) with no benefit.
In 2014 he suffered a surgery for herniated disc C5-C6 with no
symptom improvement.
The cerebral MRI and electromyography has shown no
significant changes.
The Wilson disease diagnosis can be excluded, but to confirm
Myoclonus dystonia, it’s needed to make another genetic
molecular testing for SGCE. This gene translates a
transmembrane protein in the dystrophin associated glycoprotein
complex found in skeletal muscle and neurons.
If the test is positive, the most effective treatment would be a
surgical intervention of Deep Brain Stimulation (DBS) in internal
globus pallidus and the central intermediate nucleus of the
thalamus, which can cure both the myoclonus and dystonia.
Conclusion: This case illustrates the difficulty of assigning a
clear diagnosis regarding dystonia and the complexity of
etiologies. Nonetheless, a correct diagnosis and treatment can
improve the patient’s life quality substantially.
BACKGROUND
BACKGROUND AND
AND AIM
AIM
Myoclonus dystonia syndrome (MDS) refers to a group of
heterogeneous nondegenerative clinical conditions
characterized by the association of myoclonus and dystonia as
the only or prominent symptom.
Disease onset usually occurs in the first or second decade of life.
Myoclonus is usually the presenting manifestation and is
described as swift ''lightning-like'' jerks that can rarely appear at
rest but that are usually triggered by complex motor tasks such
as drawing and writing. These movements mainly affect the
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
the form of focal or cervical dystonia, which may be only mild
and does not exacerbate with time. Postural and other forms of
tremor have sometimes been reported. MDS is often associated
with depression, anxiety, panic attacks, obsessive-compulsive
behavior and personality disorders and alcohol abuse.
Presented
Presented at
at the
the 7th
7th International
International Medical
Medical Congress
Congress of
of Students
Students and
May
May 33 –– 5,
5, 2018
2018 ,, Chisinau,
Chisinau, Republic
Republic of
of Moldova
Druta
Farmacie “Carol
“Carol Davila”
Davila”
RESULTS
RESULTS
Diagnosis is based on the presence of characteristic clinical
symptoms. Neuroimaging studies are normal. Genetic molecular
testing can confirm the diagnosis.
The only known causative gene of MDS is the epsilon-sarcoglycan
(SGCE) gene (7q21.3), encoding a transmembrane protein that is
part of the dystrophin-associated glycoprotein complex found in
skeletal and cardiac muscle. The epsilon-sarcoglycan protein is
also abundant in monoaminergic neurons, cerebellar
Purkinje cells, the cortex and the hippocampus of the brain.
MDS is inherited in an autosomal dominant manner. However,
the SGCE gene is maternally imprinted, therefore in most cases
(95%) a patient who inherits the mutation from their mother will
remain healthy and only those that inherit the mutation from their
father will develop MDS. De novo mutations also occur. Genetic
counseling is recommended in those with a known mutation.
CONCLUSIONS
CONCLUSIONS
Treatment plans are individualized to a patient's presenting
symptoms. Benzodiazepines (clonazepam) and antiepileptic drugs
(valproate, levetiracetam) are effective in relieving myoclonus and
tremor, but patients should be carefully monitored. Similarly,
alcohol frequently improves symptoms temporarily, but its long
term use is not recommended. Injections of botulinum toxin can
relieve focal and cervical dystonia.
If these treatments fail or are insufficient, bilateral deep brain
stimulation (DBS) of the internal globus pallidum (Gpi) and the
central intermediate nucleus (VIM) of the thalamus have shown
positive results in providing lasting relief from both myoclonus and
dystonia. Gpi stimulation is often sufficient in treating MDS, and
may be favored over VIM stimulation, which generally has very
little effect on dystonia. In a staged surgical procedure, quadruple
stimulation (VIM and Gpi) may also be considered in selected
cases.
No major adverse effects were noticed. Improvements in motor
symptoms are consistent with reports in the literature and can be
obtained regardless of the identification of a SGCE gene mutation.
There were also significant benefits on disability and quality of life.
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.
The laboratory results showed slighty diminished ceruloplasmin
enzyme and blood copper, but the urine copper was three times
higher than normal. The patient has been suspected of Wilson’s
disease but the genetic test came out negative and treatment with
cuprinil has been ineffective. The patient also tried taking Isicom
(levodopa), Romparkin (central anticholinergic), Haloperidol
(neuroleptic) with no benefit.
The cerebral MRI and electromyography has shown no significant
changes.
REFERENCES
REFERENCES
1. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally
imprinted". Eur. J. Hum. Genet.
2. Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. Mov
Disord. 2008
3. Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. J Neurol Neurosurg Psychiatry. 2009
4. "Uncommon Applications of Deep Brain Stimulation in Hyperkinetic Movement Disorders". Tremor and Other
Hyperkinetic Movements.
and Young
Young Doctors
Doctors MedEspera
MedEspera
Moldova