Kennedy's disease from India: An Indian Cohort with multisystemic manifestations
BackgroundKennedy's disease (KD) is a rare, insidiously progressive lower motor neuron syndrome characterised by amyotrophy involving the appendicular or bulbar musculature of adult males in their fourth to fifth decade. There are no large series from the Indian subcontinent describing the clinical-genetic and laboratory spectrum of KD.AimTo describe the clinical, electrophysiologic, metabolic and genetic profile of patients with KD.MethodsWe conducted a retrospective review of ten genetically confirmed KD patients.ResultsThe mean age of the cohort was 47 years, with a mean age of onset of illness at 41.3 ± 9.9 years. The median duration of symptoms before presentation was 5 (3-12) years. The most common referral diagnosis was ALS. The majority presented with symmetric proximal limb weakness with bulbar symptoms and were found to have gynecomastia, lower motor neuron (LMN) facial weakness, and facial and lingual fasciculations. Electrophysiology revealed sensory neuropathy in five patients and chronic neurogenic changes consistent with anterior horn cell disease in all. Metabolic profile showed impaired glycemia, hyperlipidemia and evidence of non-alcoholic fatty liver disease in the majority. All had elevated serum creatine kinase. Genetic testing revealed a median of 46 CAG repeats. The phenotypes of our patients aligned with global data that is predominantly derived from participants of European ancestry.ConclusionWe describe a series of patients with KD from India with significant multisystemic involvement.
Authors
- Saranya B Gomathy (ORCID: https://orcid.org/0009-0002-8862-0505)
- Sruthi Nair (ORCID: https://orcid.org/0000-0001-5463-5229)
- Rohit Bhatia (ORCID: https://orcid.org/0000-0001-7662-3202)
- Robert D. S. Pitceathly (ORCID: https://orcid.org/0000-0002-6123-4551)
- Ashwin Bhikaji Dalal (ORCID: https://orcid.org/0000-0001-5929-745X)
- Michael G. Hanna (ORCID: https://orcid.org/0000-0003-0825-4075)
- William L. Macken (ORCID: https://orcid.org/0000-0003-0612-5819)
- Mary M. Reilly (ORCID: https://orcid.org/0000-0003-0686-905X)
- Lindsay A. Wilson (ORCID: https://orcid.org/0009-0001-9396-5893)
- T. Ahmad (ORCID: https://orcid.org/0009-0005-2956-1148)
- Megha Dhamne (ORCID: https://orcid.org/0000-0003-3531-1872)
- Asish Vijayaraghavan (ORCID: https://orcid.org/0000-0003-0830-9224)
- Padma MV Srivastava
- M. Muthulakshmi
- Rakesh K. Singh (ORCID: https://orcid.org/0000-0002-7410-6209)
- Kumarasamy Thangaraj (ORCID: https://orcid.org/0000-0002-0075-0106)
- Venugopalan Y. Vishnu (ORCID: https://orcid.org/0000-0002-3654-8137)
- Ayush Agarwal (ORCID: https://orcid.org/0000-0003-2303-1961)
- Neerja Rani (ORCID: https://orcid.org/0000-0002-7454-5543)
- Alisha Reyaz (ORCID: https://orcid.org/0009-0007-9786-3599)
Institutions
- Grant Medical College and Sir Jamshedjee Jeejeebhoy Group of Hospitals (IN)
- Centre for Cellular and Molecular Biology (IN)
- Sree Chitra Thirunal Institute for Medical Sciences and Technology (IN)
- P. D. Hinduja Hospital and Medical Research Centre (IN)
- Paras Hospitals (IN)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
- Jawaharlal Institute of Post Graduate Medical Education and Research (IN)
- All India Institute of Medical Sciences (IN)
- Centre for DNA Fingerprinting and Diagnostics (IN)
Publication Details
- Journal
- Journal of Neuromuscular Diseases
- Published
- 2025-05-05
- DOI
- https://doi.org/10.1177/22143602251325795
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00