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Clinical Case Reports Nov 2020Facial myokymia is a clinical sign that can occur as a manifestation of demyelinating lesions. As seen in our patient with multiple sclerosis, acute-onset continuous...
Facial myokymia is a clinical sign that can occur as a manifestation of demyelinating lesions. As seen in our patient with multiple sclerosis, acute-onset continuous facial myokymia can be indicative of an active lesion and can have localizing value.
PubMed: 33235796
DOI: 10.1002/ccr3.3135 -
Cold Spring Harbor Molecular Case... Oct 2022Episodic ataxia type 1 and 2 (EA1 and EA2) are the most well-described of the episodic ataxias. They are autosomal dominantly inherited early-onset diseases...
Episodic ataxia type 1 and 2 (EA1 and EA2) are the most well-described of the episodic ataxias. They are autosomal dominantly inherited early-onset diseases characterized by attacks of cerebellar dysfunction. EA1 is clinically characterized by short episodes of ataxia with interictal myokymia, whereas EA2 is characterized by longer-lasting recurrent ataxia, slurred speech, and interictal nystagmus. We report on a patient with EA2 with interictal focal dystonia and also interictal myokymia, which is hitherto not reported as an interictal feature associated to EA2. The patient carries a previously described heterozygous pathogenic de novo frameshift variant in the gene, establishing the diagnosis of EA2. She had symptom onset at age 13 and from age 48 she developed interictal myokymia and focal dystonia as illustrated in Supplemental Movie S1. We conclude that interictal myokymia and focal dystonia may be interictal features associated to EA2 caused by the cerebellar pathophysiology of EA2. Episodes of ataxia were successfully treated with acetazolamide in low dose, whereas the interictal features were unresponsive to acetazolamide.
Topics: Female; Humans; Adolescent; Middle Aged; Acetazolamide; Myokymia; Calcium Channels; Ataxia; Cerebellar Ataxia; Dystonic Disorders
PubMed: 36307210
DOI: 10.1101/mcs.a006236 -
Movement Disorders Clinical Practice Oct 2021
PubMed: 34631950
DOI: 10.1002/mdc3.13328 -
Movement Disorders Clinical Practice Jan 2023
PubMed: 36988999
DOI: 10.1002/mdc3.13602 -
SAGE Open Medical Case Reports 2022Myokymia is defined as fluctuating hyperexcitability of muscle fibers caused by repetitive spontaneous contraction of motor units. Myokymia is generally benign with...
Myokymia is defined as fluctuating hyperexcitability of muscle fibers caused by repetitive spontaneous contraction of motor units. Myokymia is generally benign with self-resolution, although symptomatic treatment with benzodiazepines, anticonvulsants, and muscle relaxants can be used. Botulinum toxins can also be utilized, although they are mostly used for symptomatic facial myokymia. Here, we report two patients who developed continuous myokymia, resulting in secondary hypertrophy, stiffness, and discomfort in the affected muscles. The first patient had a history of a tethered spinal cord and developed continuous myokymia in the S1 and S2 radicular regions of the left leg. The second patient underwent radiation therapy for lung cancer and developed brachial plexopathy with abnormal activity in the muscles supplied by the musculocutaneous nerve in the right arm. Both patients experienced sleep disturbance, focal discomfort, and restlessness. The anticonvulsants and muscle relaxants were ineffective. Chemodenervation with botulinum A toxin was initiated using either onabotulinumtoxinA or abobotulinumtoxinA. Both patients experienced a substantial reduction in myokymia, with ongoing reversal of muscle hypertrophy and significant improvement in reported subjective symptoms. Treatment with botulinum toxins can be highly effective in patients with symptomatic segmental continuous hypertrophic myokymia and may be considered first-line therapy.
PubMed: 36406303
DOI: 10.1177/2050313X221137214 -
Ideggyogyaszati Szemle Jul 2019Morvan syndrome is a rare disease characterized by peripheral nerve hyperexcitability, encephalopathy, dys-autonomia and significant insomnia. The patient, who was...
Morvan syndrome is a rare disease characterized by peripheral nerve hyperexcitability, encephalopathy, dys-autonomia and significant insomnia. The patient, who was included in the present study, was followed-up at our clinics for confusion, myokymia, hyperhidrosis, epileptic seizures, tachycardia, agitation, hypokalemia, and hyponatremia. The cranial MRI of the patient demonstrated hyperintensities at the T2 and FLAIR sections of the medial temporal lobe and insular lobes. Electromyography and neurotransmission examination results were concordant with peripheral nerve hyperreactivity. Contactin-associated protein-like 2 antibodies and leucine-rich glioma inactivated protein 1 antibodies were detected as positive. The patient was diagnosed with Morvan syndrome; intravenous immunoglobulin and corticosteroid treatment was started. Almost full remission was achieved. This very rare syndrome implies challenges in diagnosis and treatment; however, remission can be achieved during the follow-up. In addition, caution is needed in the long-term follow-up of these patients regarding the development of malignancies.
Topics: Adrenal Cortex Hormones; Autoantibodies; Brain; Brain Diseases; Electromyography; Humans; Immunoglobulins, Intravenous; Immunologic Factors; Limbic Encephalitis; Movement Disorders; Muscular Diseases; Peripheral Nervous System Diseases; Seizures; Treatment Outcome
PubMed: 31517463
DOI: 10.18071/isz.72.0285 -
Journal of Clinical Medicine Sep 2020Paroxysmal symptoms are well-recognized manifestations of multiple sclerosis (MS). These are characterized by multiple, brief, sudden onset, and stereotyped episodes.... (Review)
Review
Paroxysmal symptoms are well-recognized manifestations of multiple sclerosis (MS). These are characterized by multiple, brief, sudden onset, and stereotyped episodes. They manifest as motor, sensory, visual, brainstem, and autonomic symptoms. When occurring in the setting of an established MS, the diagnosis is relatively straightforward. Conversely, the diagnosis is significantly more challenging when they occur as the initial manifestation of MS. The aim of this review is to summarize the various forms of paroxysmal symptoms reported in MS, with emphasis on the clinical features, radiological findings and treatment options.
PubMed: 32992918
DOI: 10.3390/jcm9103100 -
Cureus Aug 2021Patients with snakebites have highly variable presentations, and delayed diagnosis may lead to unfavorable outcomes. Here, we describe the case of a snakebite in a...
Patients with snakebites have highly variable presentations, and delayed diagnosis may lead to unfavorable outcomes. Here, we describe the case of a snakebite in a 23-year-old male who presented with myokymias. On management with mechanical ventilation and anti-snake venom, the patient improved and was discharged. The presence of myokymias may be an early clue to diagnosis and the need for mechanical ventilation in a patient with a snakebite.
PubMed: 34522488
DOI: 10.7759/cureus.16844 -
Brain Sciences Mar 2022Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy (GFAP-A) is a type of autoimmune corticosteroid-responsive meningoencephalitis that occurs with or...
Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy (GFAP-A) is a type of autoimmune corticosteroid-responsive meningoencephalitis that occurs with or without myelitis. Movement disorders have been reported in GFAP-A patients but have not been characterized. In this study, we examined the characteristics of movement disorders in GFAP-A patients. We retrospectively reviewed clinical data from 87 consecutive patients with GFAP-A attending Gifu University Hospital in Japan. We compared the demographics, clinical features, cerebrospinal fluid characteristics, and neuroimaging findings from patients with and without movement disorders. Seventy-four patients (85%) had movement disorders, including ataxia (49%), tremor (45%), myoclonus (37%), dyskinesia (2%), opsoclonus (2%), rigidity (2%), myokymia (1%), and choreoathetosis (1%). GFAP-A patients with movement disorders were significantly older than those without. Movement disorders are therefore common in GFAP-A patients, and the main types of movement disorders observed in this population were ataxia, tremor, and myoclonus. These abnormal movements can serve as clinical features that facilitate the early diagnosis of GFAP-A. Elderly GFAP-A patients are more likely to have movement disorder complications than younger patients.
PubMed: 35447992
DOI: 10.3390/brainsci12040462 -
Neuro-ophthalmology (Aeolus Press) Apr 2020Herein, we describe a novel manifestation of facial nerve synkinesis, swallow-induced eyelid myokymia, and hypothesise that this phenomenon is due to synkinetic facial...
Herein, we describe a novel manifestation of facial nerve synkinesis, swallow-induced eyelid myokymia, and hypothesise that this phenomenon is due to synkinetic facial nerve innervations of the stylohyoid-posterior digastric complex of suprahyoid muscles and orbicularis oculi muscle. In our patient's case, onabotulinum toxin A treatment provided good therapeutic response. Swallow-induced eyelid myokymia is a unique and previously unreported variety of facial nerve synkinesis.
PubMed: 32395158
DOI: 10.1080/01658107.2019.1587637