Myoclonus–dystonia syndrome is one of the well-defined “combined dystonia” syndromes, now observed in many conditions, including genetic and acquired. With widespread access to next-generation sequencing techniques, the list of genetic diseases manifesting as combined dystonia with myoclonus continues to expand. In this article, we aim to review different etiologies of combined dystonia with myoclonus. We searched databases such as PubMed, OMIM, and Gene Review using the keywords “dystonia and myoclonus” and “myoclonus–dystonia” to identify such disorders. We identified different acquired and genetic disorders manifesting with the combination of dystonia and myoclonus, with or without other movement disorders, irrespective of the predominant movement disorder. In addition, we propose the diagnostic algorithms for children and adults with myoclonus and dystonia, based on clinical manifestations to guide diagnostic procedures and further management.

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Spinocerebellar ataxia (SCA) is a clinically heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum and its associated connections. Genetic defects causing SCA include trinucleotide repeat expansions in the coding and non-coding regions of the genes, gene rearrangements, and conventional mutations. Various non-ataxic manifestations, such as dementia, peripheral neuropathy, and movement disorders (MDs) are described in SCA. MDs are the most common non-ataxic manifestations of SCA, and their prevalence and type vary according to the underlying genetic defects as well as the geographical and ethnic differences. In addition to the size of the repeat expansions, genetic modifiers contribute to the phenotypic pleiotropy of SCA. When present in association with ataxia, MDs may provide an important diagnostic clue for genotyping. However, patients with SCA presenting with MDs can be a diagnostic challenge when cerebellar ataxia is subtle or absent. Certain MDs may be more frequent in particular SCA subtypes compared to others. Similarly, MD may be an infrequent but pertinent manifestation in specific subtypes of SCA. Knowledge about MDs in SCA can help clinicians choose the genetic tests appropriately. Our paper comprehensively reviews the spectrum of MDs in SCA, and attempt to guide clinicians in choosing appropriate genetic tests for SCA in patients presenting with isolated or prominent MDs.

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BACKGROUND: Quantitative gait analysis is aimed at quantifying the degree of gait impairment in a patient. It helps to estimate the severity, track the prognosis, and identify the treatment effect in patients. There is a paucity of studies assessing gait characteristics in patients with spinocerebellar ataxia (SCA) using instrumental gait analysis. Here, we aim to identify the gait characteristics in patients with SCA and compare them with age-matched healthy individuals. METHODS: In this retrospective cross-sectional study, we analyzed the gait analysis data of patients with SCA from May 2018 to January 2020 in the gait and balance laboratory of the Physiotherapy Center in NIMHANS and compared them with age-matched controls from the existing database. The data were analyzed using an independent t-test. RESULTS: Each group consisted of 49 subjects. The SCA group had a mean age of 37.88 ± 13.25 years and the control group has a mean age of 40.88 ± 14.57 years, with a male to female ratio of 1:0.96 and 5:2, respectively. A significant difference was observed in all gait parameters (p < 0.001) between the SCA and control groups, except for swing time (p = 0.396). The SCA group demonstrated reduced velocity and cadence compared to the control group. The values of spatial parameters were reduced in the SCA group, with increased temporal parameters along with the base of support. The coefficient of variation was significantly increased in the SCA group, and the highest value was recorded for step length (10.45 ± 7.14). CONCLUSION: Patients with SCA demonstrated significant deviation in gait parameters from the normal values. The increased step-to-step variability in this patient population suggests an increased risk of falls. Identifying the changes in gait parameters at an early stage may help in planning the rehabilitation of patients with SCA, with focus on fall prevention strategies by targeting improvements in gait variability.

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Hemifacial spasm (HFS) is a movement disorder characterized by involuntary twitching of the facial muscles of one side of the face. Here, we report the case of a 31-year-old woman with relapsingremitting multiple sclerosis who presented with left-sided HFS while receiving interferon beta. Despite immunosuppressive medications and clonazepam, only a partial response was documented. Near complete resolution of HFS was achieved 6 months after a single low dose of abobotulinumtoxin A was injected into the left periocular muscles; no recurrence was observed after 4 years. Botulinum toxin injection for focal dystonia, such as HFS, may lead to long-term symptomatic benefit in patients with multiple sclerosis who have already received optimum medical treatment.

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Faciobrachial dystonic seizure is a distinctive phenomenology that is considered pathognomonic of leucine-rich glioma-inactivated protein 1 (LGI1) antibody-associated autoimmune limbic encephalitis. However, similar phenomenology has been described with other neurological disorders as well. Here, we report the case of a 26-year-old man with subacute sclerosing panencephalitis who presented with multiple episodes of involuntary movements resembling faciobrachial dystonic seizure. Serum and cerebrospinal fluid autoimmune encephalitis panel, including leucine-rich glioma-inactivated protein 1 antibody, were negative. Classical periodic stereotypical slow wave discharges on the electroencephalogram and raised measles antibody titre in cerebrospinal fluid confirmed the diagnosis of subacute sclerosing panencephalitis.

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Introduction: The coronavirus disease-19 (COVID-19) pandemic is a global health crisis that has directly and indirectly impacted almost all populations globally. In this study, we aimed to study the impact of the COVID-19 pandemic on motor and nonmotor symptoms in patients with various movement disorders who visited our outpatient department. Materials and Methods: We conducted a prospective study using a structured questionnaire involving patients who visited our outpatient department during the COVID-19 pandemic from May 2020 to April 2021. The study was conducted at the Department of Neurology at the National Institute of Mental Health and Neuro Sciences, Bangalore. Results: A total of 208 patients with the following disorders were assessed: Parkinson’s disease (n = 141), atypical parkinsonism (n = 31), dystonia (n = 15), Wilson’s disease (n = 5), and other disorders (n = 16). Approximately, 3.5% of the patients had acquired the COVID-19 infection. Almost 80% of the patients had missed scheduled appointments with their physicians during this study period due to travel restrictions or the fear of traveling. Approximately, 50% of the patients experienced worsening of their motor and nonmotor symptoms. Approximately, 25% of patients availed teleconsultation facilities, and majority of them found it to be equivalent to or better than in-person consultation. Almost 80% of the patients were eager to receive the COVID-19 vaccination. Conclusion: The COVID-19 pandemic resulted in worsening of both motor and nonmotor symptoms in patients with movement disorders. Teleconsultation is a helpful option in managing the patients’ symptoms during the pandemic.

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Cerebrotendinous xanthomatosis is a rare and underreported lipid storage disorder caused by various mutations in the CYP27A1 gene. Here, we report a novel homozygous mutation in the CYP27A1 gene in an Indian family. A 30-year-old man presented with childhood cataracts in both eyes; recurrent, intractable watery diarrhea; progressive cognitive impairment; bilateral patellar and Achilles tendon xanthomas; and ataxic speech and gait. Out of five siblings, four had similar symptoms. Three of the patient’s siblings had the same novel mutation in the CYP27A1 gene on the chromosome 2 region with c.301delG (Pro102LeufsTer5 protein change), which was homozygous. To date, the variant status of this mutation has not been reported in the Human Gene Mutation Database, the Exome Aggregation Consortium, and 1000 Genomes Project. Despite the clinical confirmation of the diagnosis and molecular analysis, our patient’s symptoms did not improve with treatment for more than a year, because of delayed presentation with irreversible damage. Treatment with chenodeoxycholic acid and 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors can reduce or reverse the progression of the disease; however, early diagnosis is key.

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