R. Garg, I. Rizvi, Vikas Prabhu, Neeraj Kumar, H. Malhotra, Praveen K Sharma
{"title":"Subacute sclerosing panencephalitis presenting as repeated extension of the neck: A case report","authors":"R. Garg, I. Rizvi, Vikas Prabhu, Neeraj Kumar, H. Malhotra, Praveen K Sharma","doi":"10.4103/aomd.aomd_4_24","DOIUrl":"https://doi.org/10.4103/aomd.aomd_4_24","url":null,"abstract":"","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"47 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141268787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vikas Lakhanpal, S. Peer, Ramandeep Singh, Bhawna Sharma
Neurodegeneration with brain iron accumulation is a collective term for neurodegenerative disorders characterized by excessive deposition of iron in the brain, especially in the globus pallidus and substantia nigra. Mitochondrial membrane protein-associated neurodegeneration mainly affects the pyramidal and extrapyramidal systems, and patients can present with various manifestations during disease progression, including gait disorder, dystonia, ataxia, swallowing dysfunction, neuropsychiatric abnormalities, cognitive disabilities, optic atrophy, and, sometimes, peripheral neuropathy. We report a patient of mitochondrial membrane protein-associated neurodegeneration with peripheral neuropathy as the predominant symptom.
{"title":"Mitochondrial membrane protein-associated neurodegeneration presenting with pure motor neuropathy: A rare case report and review of the literature","authors":"Vikas Lakhanpal, S. Peer, Ramandeep Singh, Bhawna Sharma","doi":"10.4103/aomd.aomd_3_24","DOIUrl":"https://doi.org/10.4103/aomd.aomd_3_24","url":null,"abstract":"\u0000 Neurodegeneration with brain iron accumulation is a collective term for neurodegenerative disorders characterized by excessive deposition of iron in the brain, especially in the globus pallidus and substantia nigra. Mitochondrial membrane protein-associated neurodegeneration mainly affects the pyramidal and extrapyramidal systems, and patients can present with various manifestations during disease progression, including gait disorder, dystonia, ataxia, swallowing dysfunction, neuropsychiatric abnormalities, cognitive disabilities, optic atrophy, and, sometimes, peripheral neuropathy. We report a patient of mitochondrial membrane protein-associated neurodegeneration with peripheral neuropathy as the predominant symptom.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"23 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141270536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Spinocerebellar ataxias (SCAs) represent a diverse group of hereditary and progressive neurological disorders characterized by their onset in adulthood and commonly exhibit autosomal dominant inheritance. These disorders typically involve multiple brain regions, including the cerebellum, spinal cord, basal ganglia, brainstem, and cortical areas, leading to varied and heterogeneous clinical presentations. In particular, SCA 15 is recognized as an adult-onset, slowly progressive cerebellar syndrome, often accompanied by various other neurological manifestations. In this report, we present a novel clinical phenotype of parkinsonism–dystonia syndrome co-occurring with cerebellar features in a genetically confirmed case of SCA 15.
{"title":"SCA 15 presenting with parkinsonism–dystonia, tremor, and psychosis in an Indian woman","authors":"Narendrakumar H Barad, C. Sankhla","doi":"10.4103/aomd.aomd_32_23","DOIUrl":"https://doi.org/10.4103/aomd.aomd_32_23","url":null,"abstract":"\u0000 Spinocerebellar ataxias (SCAs) represent a diverse group of hereditary and progressive neurological disorders characterized by their onset in adulthood and commonly exhibit autosomal dominant inheritance. These disorders typically involve multiple brain regions, including the cerebellum, spinal cord, basal ganglia, brainstem, and cortical areas, leading to varied and heterogeneous clinical presentations. In particular, SCA 15 is recognized as an adult-onset, slowly progressive cerebellar syndrome, often accompanied by various other neurological manifestations. In this report, we present a novel clinical phenotype of parkinsonism–dystonia syndrome co-occurring with cerebellar features in a genetically confirmed case of SCA 15.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"169 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140740183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aniket S Phutane, R. Alugolu, R. Kandadai, Vijayasaradhi Mudumba, R. Borgohain, S. Fathima, S. Meka
To assess the effect of bilateral subthalamic nucleus deep brain stimulation (B/L STN DBS) on the progression of dyskinesia and the levodopa equivalent daily dose (LEDD) in advanced Parkinson’s disease (APD) patients 6 months postoperatively. Seventeen APD patients aged 21–80 years with the minimum modified Hoen & Yahr score of 2 while off medication and poor motor function underwent B/L STN DBS from January 2021 to December 2021. They were assessed preoperatively and 6 months postoperatively using the Unified dyskinesia rating scale (UDysRS) and Unified Parkinson’s Disease Rating Scale Part IV (UPDRS IV) for dyskinesia and LEDD dosage. Significant improvement was observed postoperatively in both UDysRS (pre-op 66.53±24.59, post-op 30.88±12.01; P = 0.000) and UPDRS IV (pre-op 9.24±1.75, post-op 5.76±1.39; P = 0.000) scores. The overall clinical improvement using UDysRS was 52.23±16.23%. Each subscale of UDysRS showed significant improvement postoperatively: ON dyskinesia (pre-op 21±7.7, post-op 13.76±5.79; P < 0.05); OFF dystonia (pre-op 8.53±3.26, post-op 4.94±2.70; P < 0.05); impairment (face, pre-op 2.47±2.52, post-op 0.29±0.98, P < 0.05; neck and trunk, pre-op 6.29±4.55, post-op 0.59±0.87, P < 0.05; arms, pre-op 13.06±5.86, post-op 5.76±3.7, P < 0.05; and legs, pre-op 7.18±5.12, post-op 1.29±1.57, P < 0.05); and disability (pre-op 8±3.46, post-op 4.24±2.25; P < 0.05), suggesting high clinical significance. LEDD (pre-op 673.41±212.69mg, post-op 386.82±133.01mg; P = 0.000) showed significant reduction in dosage 6 months postoperatively. LEDD reduction and dyskinesia improvement showed mild-to-moderate positive correlation (r = 0.404). B/L STN DBS helps in improving dyskinesia by reducing LEDD in APD patients.
{"title":"The impact of bilateral subthalamic nucleus deep brain stimulation on dyskinesia and levodopa equivalent daily dose in advanced Parkinson’s disease","authors":"Aniket S Phutane, R. Alugolu, R. Kandadai, Vijayasaradhi Mudumba, R. Borgohain, S. Fathima, S. Meka","doi":"10.4103/aomd.aomd_9_23","DOIUrl":"https://doi.org/10.4103/aomd.aomd_9_23","url":null,"abstract":"\u0000 \u0000 \u0000 To assess the effect of bilateral subthalamic nucleus deep brain stimulation (B/L STN DBS) on the progression of dyskinesia and the levodopa equivalent daily dose (LEDD) in advanced Parkinson’s disease (APD) patients 6 months postoperatively.\u0000 \u0000 \u0000 \u0000 Seventeen APD patients aged 21–80 years with the minimum modified Hoen & Yahr score of 2 while off medication and poor motor function underwent B/L STN DBS from January 2021 to December 2021. They were assessed preoperatively and 6 months postoperatively using the Unified dyskinesia rating scale (UDysRS) and Unified Parkinson’s Disease Rating Scale Part IV (UPDRS IV) for dyskinesia and LEDD dosage.\u0000 \u0000 \u0000 \u0000 Significant improvement was observed postoperatively in both UDysRS (pre-op 66.53±24.59, post-op 30.88±12.01; P = 0.000) and UPDRS IV (pre-op 9.24±1.75, post-op 5.76±1.39; P = 0.000) scores. The overall clinical improvement using UDysRS was 52.23±16.23%. Each subscale of UDysRS showed significant improvement postoperatively: ON dyskinesia (pre-op 21±7.7, post-op 13.76±5.79; P < 0.05); OFF dystonia (pre-op 8.53±3.26, post-op 4.94±2.70; P < 0.05); impairment (face, pre-op 2.47±2.52, post-op 0.29±0.98, P < 0.05; neck and trunk, pre-op 6.29±4.55, post-op 0.59±0.87, P < 0.05; arms, pre-op 13.06±5.86, post-op 5.76±3.7, P < 0.05; and legs, pre-op 7.18±5.12, post-op 1.29±1.57, P < 0.05); and disability (pre-op 8±3.46, post-op 4.24±2.25; P < 0.05), suggesting high clinical significance. LEDD (pre-op 673.41±212.69mg, post-op 386.82±133.01mg; P = 0.000) showed significant reduction in dosage 6 months postoperatively. LEDD reduction and dyskinesia improvement showed mild-to-moderate positive correlation (r = 0.404).\u0000 \u0000 \u0000 \u0000 B/L STN DBS helps in improving dyskinesia by reducing LEDD in APD patients.\u0000","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"188 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140797546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Mehta, Pooja Dugani, Pradeep Rangaiah, M. Javali, P. Acharya, R. Srinivasa
Chewing dystonia, a variant of focal task-specific dystonia, is a rarely reported condition that causes remarkable decrement in quality-of-life, social embarrassment, and associated mental stress. In this article, we present two case studies that extend previous observations, which indicate a putative association between khat (Catha edulis) consumption and chewing dystonia. While pharmacological treatments such as botulinum toxin injections may be an option, a substantial proportion of affected individuals do not achieve optimal outcomes. If preventable, a medical condition ought to be prevented. The observations presented in the two case studies discussed indicate that khat consumption may be a modifiable risk factor for chewing dystonia.
{"title":"Khat consumption as a modifiable risk factor for chewing dystonia","authors":"A. Mehta, Pooja Dugani, Pradeep Rangaiah, M. Javali, P. Acharya, R. Srinivasa","doi":"10.4103/aomd.aomd_29_23","DOIUrl":"https://doi.org/10.4103/aomd.aomd_29_23","url":null,"abstract":"\u0000 Chewing dystonia, a variant of focal task-specific dystonia, is a rarely reported condition that causes remarkable decrement in quality-of-life, social embarrassment, and associated mental stress. In this article, we present two case studies that extend previous observations, which indicate a putative association between khat (Catha edulis) consumption and chewing dystonia. While pharmacological treatments such as botulinum toxin injections may be an option, a substantial proportion of affected individuals do not achieve optimal outcomes. If preventable, a medical condition ought to be prevented. The observations presented in the two case studies discussed indicate that khat consumption may be a modifiable risk factor for chewing dystonia.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"124 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140223581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Catatonia in extrapontine myelinolysis: A Case report and review of the literature","authors":"Shreyashi Jha","doi":"10.4103/aomd.aomd_30_23","DOIUrl":"https://doi.org/10.4103/aomd.aomd_30_23","url":null,"abstract":"","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"164 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140222779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Opsoclonus–myoclonus–ataxia syndrome is a well-established neurologic syndrome with paraneoplastic, postinfectious, immune-mediated, or idiopathic etiology. Ocular flutter and opsoclonus are in the same continuum with a common pathophysiology; however, their phenomenology is distinct. While eye movements in ocular flutter are strictly confined to the horizontal plane, those in opsoclonus are multidirectional. There are few case reports describing the combination of ocular flutter, myoclonus, and ataxia. In this case report, we describe a woman with the abovementioned features in the postpartum period with dramatic response to immunotherapy.
{"title":"An interesting case of ocular flutter, myoclonus, and ataxia in the postpartum period","authors":"Amrita Gotur, Alvee Saluja, Shahbaz Anees, Jyoti Verma, Prerna Sinha","doi":"10.4103/aomd.aomd_18_23","DOIUrl":"https://doi.org/10.4103/aomd.aomd_18_23","url":null,"abstract":"\u0000 Opsoclonus–myoclonus–ataxia syndrome is a well-established neurologic syndrome with paraneoplastic, postinfectious, immune-mediated, or idiopathic etiology. Ocular flutter and opsoclonus are in the same continuum with a common pathophysiology; however, their phenomenology is distinct. While eye movements in ocular flutter are strictly confined to the horizontal plane, those in opsoclonus are multidirectional. There are few case reports describing the combination of ocular flutter, myoclonus, and ataxia. In this case report, we describe a woman with the abovementioned features in the postpartum period with dramatic response to immunotherapy.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":" 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140221343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Palmaris brevis spasm syndrome is a rare disorder, mostly reported with occupational overuse of a computer keyboard, mouse, pipette, and vibratory tools or after the use of arm braces. Rarely, it can be spontaneous. It is clinically characterized by spontaneous contraction of the palmaris brevis muscle over the hypothenar eminence. Here, we report a patient with long-standing, spontaneous, and bilateral palmaris brevis spasm syndrome without any occupational exposure who demonstrated excellent response to botulinum toxin therapy. Clinicians should be aware of this rare but treatable entity in patients presenting with hypothenar spasms.
{"title":"Palmaris brevis spasm syndrome: The treatable hypothenar dimpling","authors":"Jacky Ganguly, Neha Pandita, Shubhrangshu Banerjee, Soumava Mukherjee, Nilam Singh, P. Basu, Hrishikesh Kumar","doi":"10.4103/aomd.aomd_40_23","DOIUrl":"https://doi.org/10.4103/aomd.aomd_40_23","url":null,"abstract":"\u0000 Palmaris brevis spasm syndrome is a rare disorder, mostly reported with occupational overuse of a computer keyboard, mouse, pipette, and vibratory tools or after the use of arm braces. Rarely, it can be spontaneous. It is clinically characterized by spontaneous contraction of the palmaris brevis muscle over the hypothenar eminence. Here, we report a patient with long-standing, spontaneous, and bilateral palmaris brevis spasm syndrome without any occupational exposure who demonstrated excellent response to botulinum toxin therapy. Clinicians should be aware of this rare but treatable entity in patients presenting with hypothenar spasms.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"113 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140223170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dinesh Khandelwal, Neha Pemassini, Ashish Pemawat, V. Mathur
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.
{"title":"ADCY5-related dyskinesias: An amalgamation of various hyperkinetic movement disorders","authors":"Dinesh Khandelwal, Neha Pemassini, Ashish Pemawat, V. Mathur","doi":"10.4103/aomd.aomd_35_23","DOIUrl":"https://doi.org/10.4103/aomd.aomd_35_23","url":null,"abstract":"\u0000 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.\u0000 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.\u0000 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.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"64 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140223125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Blepharospasm may be the most disabling of symptoms in Meige’s syndrome, and sunglasses or specialized tinted lenses (FL-41) have been suggested to be useful. The present report provides electrophysiological evidence to substantiate the utility of sunglasses as an alternative alleviating agent for Meige’s syndrome secondary to deep cerebral venous thrombosis with improvement extending beyond blepharospasm.
{"title":"Sunglasses as an alternative alleviating agent for secondary Meige’s syndrome: Electrophysiological evidence","authors":"Shweta Prasad, V. Holla, P. Pal","doi":"10.4103/aomd.aomd_26_23","DOIUrl":"https://doi.org/10.4103/aomd.aomd_26_23","url":null,"abstract":"\u0000 Blepharospasm may be the most disabling of symptoms in Meige’s syndrome, and sunglasses or specialized tinted lenses (FL-41) have been suggested to be useful. The present report provides electrophysiological evidence to substantiate the utility of sunglasses as an alternative alleviating agent for Meige’s syndrome secondary to deep cerebral venous thrombosis with improvement extending beyond blepharospasm.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"226 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140222839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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