Publications by authors named "Umesh Kalane"
Article Synopsis
- Rare disorders include about 7,500 different conditions that are challenging to diagnose due to a lack of specialized healthcare, testing facilities, and treatment options, particularly in countries like India with diverse population groups.
- This study examined a cohort of 3,294 patients with 305 identified rare genetic diseases, primarily affecting the neuromuscular and neurodevelopmental systems, as well as inborn errors of metabolism.
- The findings revealed that the most common diseases were Gaucher disease in the IEM category, and Duchenne muscular dystrophy and trinucleotide repeat expansion disorders in the NMND group, highlighting the need for more focused genetic research and healthcare resources in India.
Objective: Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in Indian children.
Methods: Between January 2021 and June 2022, this cross-sectional study was conducted at six centers in India.
Background: Hypermanganesemia with dystonia 1 and 2 (HMNDYT1 and 2) are rare, inherited disorders of manganese transport.
Objectives: We aimed to describe clinical, laboratory features, and outcomes among children with HMNDYT.
Methods: We conducted a retrospective multicenter study involving tertiary centers across India.
Glutaric acidemia type 1 (GA-1, OMIM 231670) is an autosomal recessive inborn error of metabolism caused by the deficiency of glutaryl-coenzyme A (CoA) dehydrogenase with most children presenting in infancy with encephalopathy, dystonia, and macrocephaly. In this article, we presented the clinical characteristics, molecular profile, and outcomes in 29 unrelated families with affected children (30 cases total). The mean age at onset of illness was 10 months (±14.
View Article and Find Full Text PDFObjective: To compare clinical and nerve conduction studies (NCS) parameters predictive of outcome in children with acute inflammatory demyelinating polyneuropathy (AIDP) and acute motor axonal neuropathy (AMAN).
Methods: In this prospective observational study, NCS was done on all children at admission and repeated before discharge. Functional status of patients was graded as per Hughes Disability score.
Charcot Marie Tooth (CMT) disease is a group of hereditary motor sensory neuropathies with significant genetic heterogeneity. This disorder has been scarcely reported in the Indian literature. Here, we report a case of the rare but relatively more severe autosomal recessive CMT type 4C disease with a few features that are distinct from its regular presentation.
View Article and Find Full Text PDFExpanding the spectrum of mutations in Indian patients with Tay-Sachs disease.
Mol Genet Metab Rep
September 2014
Tay-Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.
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