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This article discusses a case study of a 21-year-old female patient with combined oxidative phosphorylation deficiency 1 (a mitochondrial disease) who presented with generalized dystonia as the main symptom. The patient experienced a gradual onset of symptoms, including hand posturing, twisting of the hand, walking on toes, trunk bending, forceful blinking, and jerky movements of the fingers and toes. The patient also exhibited cognitive impairments and had abnormal findings on brain MRI and nerve biopsies. Genetic testing revealed compound heterozygous variants in the GFM1 gene. Treatment with medication and botulinum toxin injections provided some improvement. The article highlights the unique aspects of this case and emphasizes the phenotypic and genotypic heterogeneity of GFM1-linked diseases. [Extracted from the article]

We report a rare presentation of neurosyphilis as myoclonus ataxia syndrome with unusual imaging findings. Keywords: myoclonus; ataxia; neurosyphilis; imaging EN myoclonus ataxia neurosyphilis imaging 1207 1210 4 08/29/23 20230801 NES 230801 There has been an increase in the rates of syphilis in recent years attributed to the AIDS epidemic and illicit drug use.[1] Neurosyphilis can present either in meningeal/vascular form or parenchymal form.[2] Given its versatile presentations, syphilis is considered a "great imitator." Myoclonus, ataxia, neurosyphilis, imaging. [Extracted from the article]

Keywords: ataxia; hypogonadotropic hypogonadism; chorioretinal dystrophy EN ataxia hypogonadotropic hypogonadism chorioretinal dystrophy 697 700 4 04/18/23 20230401 NES 230401 Boucher Neuhäuser syndrome (BNS) is a rare disorder defined by the clinical triad of hypogonadotropic hypogonadism, spinocerebellar ataxia, and chorioretinal dystrophy.[1] We are presenting this rare syndrome in twins, which has not been described to the best of our knowledge. Ataxia, hypogonadotropic hypogonadism, chorioretinal dystrophy The proband's younger twin sister also had a similar chronology of amenorrhea (hypoplastic uterus with hypogonadotropic hypogonadism) followed by visual disturbances and cerebellar ataxia. [Extracted from the article]

Firstly, fulminant SSPE is a rare presentation, while its presentation as a predominant movement disorder is even more unusual.[[2]] Most cases of fulminant SSPE usually present with cognitive impairment, myoclonus and visual loss. SSPE, dystonia, myoclonus, opisthotonus Keywords: SSPE; dystonia; myoclonus; opisthotonus EN SSPE dystonia myoclonus opisthotonus 830 832 3 05/18/23 20230501 NES 230501 Fulminant SSPE (Subacute Sclerosing Panencephalitis) has been defined as the development of at least 66% neurological disability within 3 months of the first neurological symptom and death or a severe neurological disability (exceeding 90%) within 6 months of onset.[1] This case emphasizes the highly fulminant presentation of SSPE as a hyperkinetic movement disorder, due to which the classical clinical features could not be appreciated. [Extracted from the article]

The article presents a case study of a 24-year-old man having complaints of spastic paraparesis and gait ataxia and with a history of poor scholastic performance and a spastic speech. It discusses the result of the central nervous system examination showing the presence of spasticity in the lower limbs as well as offers information about cerebrotendinous xanthomatosis and marfan syndrome.

The article presents acase study of 19-year-old male with Paroxysmal dyskinesias, a heterogeneous group of movement disorders ranging from athetosis, chorea, ballism dsystonia in isolation which are classified based on trauma, stroke meningovascular syphilis, multiple sclerosis and metabolic disorders . Treatment includes use of benzodiazepines, acetazolamide, levetiracetam and deep brain stimulation in refractory cases and a simple investigation like CT scan is used for detection.