Myokymia Research Articles

Treatment of Hemimasticatory Spasm and Facial Myokymia Associated with Hemifacial Atrophy and Localized Morphea with Botulinum Neurotoxin and Immunotherapy

Treatment of Hemimasticatory Spasm and Facial Myokymia Associated with Hemifacial Atrophy and Localized Morphea with Botulinum Neurotoxin and Immunotherapy

ADCY5-related dyskinesias: An amalgamation of various hyperkinetic movement disorders

Abstract Adenylyl cyclase 5 (ADCY5)-related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination thereof, primarily involving the limbs, face, and neck. Other core clinical features include nocturnal ballistic bouts and facial dyskinesias, often followed by remission during adolescence, as well as axial hypotonia. Any mixed movement disorder accompanied by the aforementioned core features should prompt genetic testing for ADCY5 mutation. We report the case of a 31-year man from North India with a childhood-onset history of clumsy, random, and jerky body and facial movements, interfering with his speech and object-handling and walking-related functional abilities. He improved symptomatically with zonisamide and was offered caffeine as a maintenance option. Here, we review the literature on this entity, while reporting this first case of ADCY5-related dyskinesias from North India. The phenotypic spectrum linked to ADCY5 mutations has significantly broadened since its initial description in a family with “familial dyskinesia and facial myokymia.” This phenotypic variability could be responsible for a proportion of “idiopathic” hyperkinetic movement disorders. Gaining a better understanding of its clinical manifestations helps in identifying complex or uncommon cases more effectively.

Teaching Video NeuroImages: Facial myokymia and myorhythmia in anti-IgLON5 disease

A 79-year-old woman presented with an 8-month history of parasomnia and progressive bulbar syndrome with dysarthria, dysphagia, facial myokymia, and mandibular myorhythmia (video 1) resulting in biting scars of her lower lip. Brain MRI and EEG were unremarkable. CSF analysis showed intrathecal antibody synthesis and elevated tau 372 pg/mL (0–320 pg/mL) and phospho-tau 54 pg/mL (0–50 pg/mL). Antibodies against IgLON5 were highly positive (1:1,000) in CSF and serum. Anti-IgLON5 disease was diagnosed.1 Recognition of bulbar symptoms with myokymia and myorhythmia as part of an anti-IgLON5 disease may be important to start early immunotherapy to prevent progression to neurodegeneration.2

Facial Myokymia and Hemimasticatory Spasm with Linear Focal Alopecia.

Facial Myokymia and Hemimasticatory Spasm with Linear Focal Alopecia.

Facial involvement in multiple sclerosis

BackgroundMultiple sclerosis (MS) can present with facial symptoms and signs, such as facial palsy, myokymia, and hemifacial spasm. Considering the importance of early diagnosis, treatment, and exclusion of causes other than MS, we aimed to assess the prevalence of these disorders in patients with MS. MethodsMS patients who were referred to the Isfahan MS clinic from March 2021 to March 2022 were observed for facial presentations of the disease. A checklist of patients’ baseline characteristics and disease features were then completed through patient interview and medical files. ResultsOf the total of 2260 MS patients who were assessed, 3.27% had facial palsy, 1.28% had myokymia, and 0.84% presented with hemifacial spasm. The mean age of facial symptom onset was 30.74, 29.07, and 31.37 years, respectively. No relationship was found between the type of facial presentation and factors such as age, gender, subtype of MS, affected side of face, and time of presentation. ConclusionOn the grounds that facial disorders can be the first presentation of MS, patients with atypical features of other common facial diseases such as Bell's palsy should therefore be carefully assessed and followed for any clues pertaining to the diagnosis of MS.

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

The leucine-rich glioma-inactivated (LGI) family consists of four highly conserved paralogous genes, LGI1-4, that are highly expressed in mammalian central and/or peripheral nervous systems. LGI1 antibodies are detected in subjects with autoimmune limbic encephalitis and peripheral nerve hyperexcitability syndromes (PNHSs) such as Isaacs and Morvan syndromes. Pathogenic variations of LGI1 and LGI4 are associated with neurological disorders as disease traits including familial temporal lobe epilepsy and neurogenic arthrogryposis multiplex congenita 1 with myelin defects, respectively. No human disease has been reported associated with either LGI2 or LGI3. We implemented exome sequencing and family-based genomics to identify individuals with deleterious variants in LGI3 and utilized GeneMatcher to connect practitioners and researchers worldwide to investigate the clinical and electrophysiological phenotype in affected subjects. We also generated Lgi3-null mice and performed peripheral nerve dissection and immunohistochemistry to examine the juxtaparanode LGI3 microarchitecture. As a result, we identified 16 individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. Deep phenotypic characterization showed LGI3 LoF causes a potentially clinically recognizable PNHS trait characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability. Lgi3-null mice showed reduced and mis-localized Kv1 channel complexes in myelinated peripheral axons. Our data demonstrate bi-allelic LoF variants in LGI3 cause a clinically distinguishable disease trait of PNHS, most likely caused by disturbed Kv1 channel distribution in the absence of LGI3.

EXTRACEREBELLAR SIGNS OF SPINOCEREBELLAR ATAXIA TYPE 5

Background: The vast majority of studies and reviews state that spinocerebellar ataxia type 5 (SCA5) is exclusively manifested by pure ataxia. We found scant information on extracerebellar manifestations of SCA5. Objective: The purpose of our review was to find any information about extracerebellar signs of spinocerebellar ataxia type 5. Methods: PubMed and Google Scholar resources were used to write the review article. Results: Ranum L.P., et al. (1994), and Bürk K., et al. (2004) described writer’s cramp dystonia, facial myokymia, limited lateral gaze, brisk reflexes, and impaired vibration sense in patients with SCA5 [1, 2]. Maschke M., et al. (2005) noticed the possible presence of hyperreflexia, incontinence, tingling and cramps, diplopia, horizontal and vertical ophthalmoparesis in patients with SCA5 [3]. Spagnoli C., et al. (2020) documented infantile-onset SCA5 with optic atrophy and peripheral neuropathy, and bilateral cataracts as associated findings [4]. Stevanin G., et al. (1999) had shown that facial myokymia and decreased vibration sense are frequent and reflect lesions of other structures than the cerebellum or its pathways [5]. We did not find any article describing parkinsonism in patients with SCA5. Conclusion: Extracerebellar manifestations of SCA5 are rare, but at the same time they can occur and are described in the literature.

Movement Disorders in Multiple Sclerosis: An Update.

Background:Multiple sclerosis (MS), a subset of chronic primary inflammatory demyelinating disorders of the central nervous system, is closely associated with various movement disorders. These disorders may be due to MS pathophysiology or be coincidental. This review describes the full spectrum of movement disorders in MS with their possible mechanistic pathways and therapeutic modalities.Methods:The authors conducted a narrative literature review by searching for ‘multiple sclerosis’ and the specific movement disorder on PubMed until October 2021. Relevant articles were screened, selected, and included in the review according to groups of movement disorders.Results:The most prevalent movement disorders described in MS include restless leg syndrome, tremor, ataxia, parkinsonism, paroxysmal dyskinesias, chorea and ballism, facial myokymia, including hemifacial spasm and spastic paretic hemifacial contracture, tics, and tourettism. The anatomical basis of some of these disorders is poorly understood; however, the link between them and MS is supported by clinical and neuroimaging evidence. Treatment options are disorder-specific and often multidisciplinary, including pharmacological, surgical, and physical therapies.Discussion:Movements disorders in MS involve multiple pathophysiological processes and anatomical pathways. Since these disorders can be the presenting symptoms, they may aid in early diagnosis and managing the patient, including monitoring disease progression. Treatment of these disorders is a challenge. Further work needs to be done to understand the prevalence and the pathophysiological mechanisms responsible for movement disorders in MS.

Continuous facial myokymia in multiple sclerosis.

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.

Facial myokymia in inherited peripheral nerve hyperexcitability syndrome

Peripheral nerve hyperexcitability syndrome comprises a heterogeneous group of diseases, clinically characterised by myokymia, fasciculation, muscle cramps and stiffness. The causes are either immune mediated or non-immune mediated. Non-immune-mediated forms...

Facial Myokymia Due to a Pontine Inflammatory Demyelinating Disorder Associated with Mixed Connective Tissue Disorder [MCTD

Facial Myokymia Due to a Pontine Inflammatory Demyelinating Disorder Associated with Mixed Connective Tissue Disorder [MCTD

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C

BackgroundFriedreich ataxia (FRDA) is the most common familial ataxia syndrome in Central and Southern Europe but rare in Scandinavia. Biallelic mutations in SH3 domain and tetratricopeptide repeats 2 (SH3TC2) cause Charcot-Marie-Tooth disease type 4C (CMT4C), one of the most common autosomal recessive polyneuropathies associated with early onset, slow disease progression and scoliosis. Beyond nystagmus reported in some patients, neither ataxia nor cerebellar atrophy has been documented as part of the CMT4C phenotype.MethodsHere we describe a single centre CMT4C cohort. All patients underwent a comprehensive characterization that included physical examination, neurophysiological studies, neuroimaging and genetic testing. In a patient with cerebellar features, an evaluation of the vestibular system was performed.ResultsAll five patients in this cohort harbored the R954X mutation in SH3TC2 suggesting a founder effect. Two patients had been diagnosed as FRDA. One of them, an 80-year-old woman had onset of unsteadiness during childhood leading to gradual loss of mobility. She also had scoliosis and hearing loss. On examination she had generalized muscle atrophy, leg flaccidity, pes cavus, facial myokymia, limb dysmetria, dysarthria and gaze-evoked nystagmus. She exhibited bilateral vestibular areflexia. Neuroimaging demonstrated atrophy in the frontoparietal regions and cerebellar hemispheres.ConclusionsCMTC4A may present with a cerebellar phenotype and mimic a flaccid-ataxic form of FRDA. Absence of cardiomyopathy or endocrine abnormalities and lack of pathological dentate iron accumulation in CMT4C distinguish it from FRDA.

Familial dyskinesia and facial myokymia in a patient with ADCY5 gene mutation

Familial dyskinesia and facial myokymia in a patient with ADCY5 gene mutation

When electrodiagnosis for tremor reveals a rare peripheral disease

Objectives Spinal and bulbar muscular atrophy (SBMA) (or Kennedy's disease) is a rare X-linked neurodegenerative disorder associated with limb and bulbo-facial paresis, sensory symptoms and tremor. Tremor usually precedes peripheral motor signs by a decade. It is supposed to result from several peripheral mechanisms [1] . Results Here we report a case of a 42 years-old patient who was addressed to the department for exploration of isolated bilateral upper limb tremor. Surface polymyographic examination revealed numerous spontaneous and short (7–12 ms) bursts at rest consistent with fasciculations and associated with a postural myoclonic tremor as well as with exaggerated physiological tremor of 8–10 Hz. Detailed clinical examination showed a generalized areflexia, cramps, mild paresis of upper limbs, gynecomastia and facial myokymia. Conventional electromyography (EMG) showed a chronic motor denervation in the muscles of the four limbs and the face with normal motor nerve conduction; however, fasciculations were not detected by needle EMG. In sensory nerves of four limbs, a homogeneous decrease of action potentials amplitudes was found consistent with axonal sensory neuropathy. Altogether, these findings were strongly suggestive of a SBMA. Genetic testing for CAG repeats in the androgen receptor gene is under investigation. As a reference, we show typical surface EMG recordings of upper limbs and neurophysiological characteristics of tremor of a patient with genetically documented SBMA (48 CAG triplets) at a more severe stage of the disease. Conclusion Spontaneous surface EMG activity compatible with fasciculations might be a valuable marker of a neuropathic tremor and potentially a revealing sign of SBMA.

Diagnosis of primary hemifacial spasm

The diagnosis of primary hemifacial spasm (pHFS), due to a benign compression of the facial motor nerve by a vessel, within or close to its root exit zone, is often made with delay. Misdiagnosis includes psychogenic spasm, tics, facial myokymia or blepharospasm, but in fact post-facial palsy synkinesis (post-paralytic HFS) is the closest clinical condition, because it is limited to the territory of the facial nerve of a single hemiface. The differential diagnosis between these two entities, whose pathophysiological mechanisms are very different, can be made by electroneuromyographic (ENMG) examination. In addition, magnetic resonance imaging (MRI) is essential to show the offending vessel at the origin of pHFS and the absence of other causes of nerve compression. However, the diagnosis cannot be made on MRI basis alone, since a neurovascular conflict can be present in clinically asymptomatic subjects. This article reviews the clinical, MRI, and ENMG features in favour of a pHFS diagnosis as well as the various differential diagnoses of this involuntary facial movement disorder.

Facial Myokymia and Hemifacial Spasm in Multiple Sclerosis: A Descriptive Study on Clinical Features and Treatment Outcomes.

Facial Myokymia and hemifacial spasm have been associated with multiple sclerosis; however, their etiology and clinical outcome is uncertain. Here, we describe the clinical, radiologic features, and treatment outcomes of a cohort of patients with multiple sclerosis and history of facial myokymia or hemifacial spasm. We reviewed the clinical features, radiologic features, and treatment outcomes of 35 patients with a diagnosis of multiple sclerosis and facial myokymia (28) or hemifacial spasm (7) seen at Mayo Clinic (Rochester, MN). Facial myokymia was associated with a clinical or radiologic relapse in 11 of 28 patients. In 27 of 28 patients with facial myokymia, symptom resolution occurred within months regardless of treatment. An ipsilateral pontine lesion was found in 3 of 7 cases with hemifacial spasm. Hemifacial spasm was associated with a clinical or radiologic relapse in 3 of 7 cases. Hemifacial spasm resolved within 4 years in 5 of 7 cases, with the remaining cases persisting up to 9 years despite treatment. Facial myokymia and hemifacial spasm occurring in patients with multiple sclerosis is associated with an ipsilateral pontine MRI lesion in a minority of patients. Facial myokymia is a self-limited process while hemifacial spasm can be persistent in a minority of patients, despite treatment.

Predictive Factors of Unfavorable Events After Gamma Knife Radiosurgery for Vestibular Schwannoma.

Gamma Knife radiosurgery (GKS) for the treatment of vestibular schwannoma (VS) introduces risks to the facial nerve and auditory perception and may involve post-treatment complications such as pseudoprogression, hydrocephalus, and other cranial neuropathies. This study of patients with VS who underwent GKS investigated radiosurgical results, focusing on post-treatment complications and identifying the factors that predict such complications. We undertook a retrospective review of all VS patients treated with the Perfexion Leksell Gamma Knife between November 2007 and October 2010 at our institution. Patients who underwent at least 12 months of clinical and radiologic assessments before and after GKS were included. All 235 patients were included in the analyses reported here. The 5-year serviceable hearing and facial nerve preservation values were 73.9% and 94.3%, respectively. Following GKS, 43 patients (18.30%) showed pseudoprogression, 15 (6.38%) exhibited hydrocephalus, 22 (9.36%) showed trigeminal neuropathy, 14 (5.96%) showed vertigo, and 25 (10.64%) showed facial myokymia. According to multivariate analysis, solid tumor nature was significantly associated with pseudoprogression and patient age was significantly associated with hydrocephalus. Patients receiving margin doses ≥13 Gy had a significantly higher probability of loss of serviceable hearing. Patients with smaller tumors had a trigeminal nerve preservation rate comparable with patients harboring larger tumors. Patients receiving margin doses <13 Gy or older patients had a significantly higher probability of vestibular nerve dysfunction. Further prospective studies should be designed to provide further insight into the exact relationship between the predictive factors we investigated and post-treatment complications.

Unilateral tongue myokymia – A rare topodiagnostic sign of different clinical conditions

Myokymia of the tongue is a very rare clinical condition and is much less common than facial or focal myokymia of the limbs. Radiation-induced delayed nerve damage is a well-known cause of myokymia, but other etiologies i.e. tumor recurrence should be considered as a differential diagnosis. We describe a case series of neurophysiologically proven unilateral tongue myokymia, which arose in two patients after radiotherapy of the neck/head and in one patient due to a space occupying meningioma of the cerebrospinal passage affecting the hypoglossal nerve. With this case series and a review of the literature we aim to raise clinical suspicion of tongue myokymia and highlight the clinical and electromyographic impact of myokymia in the diagnosis of malignancies and treatment-associated lesions of the hypoglossal nerve.

Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study

ObjectiveA clinical feature in patients with ADCY5 gene mutations are perioral muscle twitches initially described as facial myokymia. MethodsFive patients with ADCY5-associated disease with facial twitches and truncal jerks underwent electrophysiological investigations of the orbicularis oris and trapezius muscles to delineate neurophysiological characteristics of these phenomena. ResultsElectromyography (EMG) recordings showed a complex electrophysiological pattern with brief bursts of less than 100 ms and longer bursts with a duration of 100–300 ms up to several seconds in keeping with myoclonus and chorea, respectively, as key findings. None of the patients had EMG patterns of myokymia. ConclusionsIn this series of five ADCY5 mutation carriers, perioral twitches and truncal jerks do not represent myokymia. In view of characteristic clinical signs and electrophysiological patterns with a combination of myoclonus and chorea it might be preferable to refer to these phenomena as myoclonus-chorea.

Continous Idiopathic Facial Myokymia Succesfully Treated with Botulinum Toxin

Continous Idiopathic Facial Myokymia Succesfully Treated with Botulinum Toxin