Ataxia telangiectasia is a genetically inherited multisystem disorder with predominant feature being telangiectasia and cerebellar ataxia. In this report, a family of three siblings suffering from ataxia telangiectasia is described. The proband presented with dystonia and dystonic myoclonus, both of which are rare presenting features of ataxia telangiectasia.

CASE REPORT - Dystonia as Presenting Manifestation of Ataxia Telangiectasia : A Case Report

There are very few studies based on the updated dystonia classification. However, a comparison of the idiopathic and non-idiopathic dystonias based on the newer classification has not been done previously. To study and compare the clinicoetiological profile of patients with idiopathic and non-idiopathic dystonia attending a movement disorder clinic of a tertiary care teaching institution. All the consecutive dystonia patients from October 2017 to September 2019 fulfilling the inclusion criteria were subjected to a detailed clinical evaluation. Investigations were performed as per requirement. Patients were classified according to the consensus update on phenomenology and classification of dystonia. A total of 183 patients with dystonia were included, with 61.7% (113) males and 38.3% (70) females. The idiopathic group revealed a significantly earlier age of onset with cases slightly outnumbering (n = 96/183, 52.5%) the non-idiopathic group (n = 87/183, 47.5%). Focal dystonias were the commonest type in both the idiopathic (n = 58/96, 60.4%) and non-idiopathic groups (n = 30/87, 34.5%), while generalized dystonia accounted for 26.4% (n = 23/87) of the non-idiopathic cases and only 3.1% (n = 3/96) of the idiopathic cases. The majority of idiopathic cases were isolated dystonia (n = 93/96, 96.9%), while all hemidystonias were non-idiopathic. Focal dystonias were the commonest in both idiopathic and non-idiopathic groups, while generalized dystonia was significantly commoner in the non-idiopathic group. Acquired causes like drugs, perinatal insult were the commonest etiology in the non-idiopathic group. Hemidystonia was found exclusively in the non-idiopathic acquired group.

Comparative study between idiopathic and non-idiopathic dystonia: a prospective observational study

Objective: To study the demographic, clinical and etiological profile of dystonia in patients less than forty years of age. Material and Methods: In this study two hundred and nineteen patients with different dystonia were included. Data on demographic profile, clinical and etiological profile was recorded and statistical analysis was done by using descriptive analysis (frequency distribution). Results: Out of two hundred and nineteen patients, one hundred thirteen (51.7%) were <26 years of age of onset and one hundred six (48.4%) had >26 years of age of onset with mean age of onset 22.3 years, one hundred seventy six were males and forty four females. Mean duration of illness was 4.4 years. Frequency of different dystonia was focal dystonia 57.72%, multifocal 1.36%, segmental 10%, generalized 29.09%, hemidystonia 3.63% and paroxysmal kinesigenic dystonia 2.72%. Among focal dystoniaWriter’s cramp was most common (63%) followed by cervical dystonia (17.32%), and blepharospasm(7%). Among generalized dystonia Wilson’s disease was most common etiological factor in 31.25% cases. Primary generalized dystonia was seen in 17.2% cases. MRI was abnormal in all eight cases of hemidystonia. SPECT brain was abnormal in 1 out of four cases of paroxysmal kinesigenic dystonia. DYT1 was positive in four out of eleven patients of primary generalized dystonia. Conclusion: Present study showed that focal dystonia were more common even in younger age group with Writers cramp most common among all dystonia followed by cervical dystonia. In hemidystonia structural lesion should always be ruled out.

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M Behari

Papers

Demographic, Clinical and Etiological Profile of Young Dystonia Less Than Forty Years of Age – A Hospital Based Study