Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene

Khadilkar, Satish V; Chaudhari, Chetan; Dastur, Rashna S; Gaitonde, Pradnya S; Yadav, Jayendra G

doi:10.4103/0972-2327.175435

Cited by 15 publications

(8 citation statements)

References 21 publications

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“…20 Among neurologic diseases, limb-girdle muscular dystrophy and megalencephalic leukodystrophy with subcortical cysts are relatively more prevalent among the same ethnic group. [21][22][23] Depending on the geography of data collection, the prevalence of SCA has varied in different studies from India. SCA2 generally was the most common type in Northern, Eastern, and Western India.…”

Section: Resultsmentioning

confidence: 99%

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Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India

Choudhury

Chatterjee

et al. 2017

Movement Disord Clin Pract

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Background: Spinocerebellar ataxia type 12 (SCA12) is a rare form of an autosomal-dominant ataxic disorder associated with an expansion of CAG repeat length. Here, we present a large case series of patients with SCA12 and describe a wide range of typical and rare symptoms. Methods: Twenty-one consecutive patients with genetically proven SCA12 underwent detailed neurological examination. We assessed clinical characteristics using validated rating scales for evaluating motor features in SCA. Nonmotor symptoms and quality of life were assessed using appropriate, validated scales. Correlations of CAG repeat length with both severity score and age of onset were explored. Results: The mean age of onset was 51 years, and most patients were descendants of a single, endogamous Indian community (Agarwal). Tremor was the most common initial presenting symptom (90%). Hand dystonia was present in 14 of 21 patients, and most patients in the cohort presented with gait disturbance. Neuropsychiatric manifestations were common coexisting features. The CAG repeat length was significantly correlated (r = À0.760; P = 0.0001) with early age of onset, but not with disease severity. Tremor affected the quality of life in 18 of 21 patients, because they had difficulty in handling liquids. Conclusions: Tremor was the most common, nonataxic symptom at initial presentation in patients with SCA12. Proximal upper limb tremor, typically with high amplitude and low frequency, can raise a strong diagnostic suspicion. Associated hand dystonia was a common coexisting motor feature. Various nonmotor features were also observed in several cases which require therapeutic attention.

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Section: Resultsmentioning

confidence: 99%

“…This may be associated with low physical activity and high dietary calorie and fat intake . Among neurologic diseases, limb‐girdle muscular dystrophy and megalencephalic leukodystrophy with subcortical cysts are relatively more prevalent among the same ethnic group …”

Section: Discussionmentioning

confidence: 99%

Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India

Choudhury

Chatterjee

et al. 2017

Movement Disord Clin Pract

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“…Another interesting point noted in our cohort was the clustering of patients in the Agarwal/Jain community, with most of these patients carrying the p.G47R variant. This is an endogamous community, and genetic diseases like limb‐girdle muscular dystrophy type 2A, megalencephalic leukodystrophy with cysts, and hereditary fructose intolerance have been reported in this community (30–33).…”

Section: Discussionmentioning

confidence: 99%

Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India

Sharma

Naidu

Sharma

et al. 2020

Arthritis & Rheumatology

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Objective Deficiency of adenosine deaminase 2 (DADA2) is a potentially fatal monogenic syndrome characterized by variable manifestations of systemic vasculitis, bone marrow failure, and immunodeficiency. Most cases are diagnosed by pediatric care providers, given the typical early age of disease onset. This study was undertaken to describe the clinical phenotypes and treatment response both in adults and in children with DADA2 in India. Methods A retrospective analysis of pediatric and adult patients with DADA2 diagnosed at various rheumatology centers across India was conducted. Clinical characteristics, diagnostic findings, and treatment responses were analyzed in all subjects. Results In total, 33 cases of DADA2 were confirmed in this cohort between April 2017 and March 2020. Unlike previous studies, nearly one‐half of the confirmed cases presented during adulthood. All symptomatic patients exhibited features of vasculitis, whereas constitutional symptoms and anemia were more common in pediatric patients. Cutaneous and neurologic involvement were common, and 18 subjects had experienced at least one stroke. In addition, the clinical spectrum of DADA2 was expanded by recognition of novel features in these patients, including pancreatic infarction, focal myocarditis, and diffuse alveolar hemorrhage. Treatment with tumor necrosis factor inhibitors (TNFi) was initiated in 25 patients. All of the identified disease manifestations showed marked improvement after initiation of TNFi, and disease remission was achieved in 19 patients. Two cases were complicated by tuberculosis infection, and 2 deaths were reported. Conclusion This report presents the first case series of patients with DADA2 from India, diagnosed by adult and pediatric care providers. The findings raise awareness of this syndrome, particularly with regard to its presentation in adults.

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“…This founder allele analysis can be utilized as the initial noninvasive diagnostic step for index cases, carrier detection, and counseling, with almost 90% yield. [ 54 ]…”

Section: Alpainopathymentioning

confidence: 99%

Limb-girdle muscular dystrophies in India: A review

Khadilkar¹,

Faldu²,

Patil³

et al. 2017

Ann Indian Acad Neurol

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Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India. Besides these, anecdotal reports of many other forms are available, some with genetic support and others showing immunocytochemical defects. The genotypic information on LGMDs is gradually evolving and founder mutations have been detected in selected populations. Further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India.

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Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene

Cited by 15 publications

References 21 publications

Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India

Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India

Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India

Limb-girdle muscular dystrophies in India: A review

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