• Dipti Baskar, Preethish Veeramani-Kumar, Kiran Polavarapu, Saraswati Nashi, Seena Vengalil, Deepak Menon, Aneesha Thomas, Sai Bhargava Sanka, Keerthipriya Muddasu Suhasini, Akshata Huddar, Gopikrishnan Unnikrishnan, Mainak Bardhan, Priya Treesa Thomas, Nisha Manjunath, and Nalini Atchayaram.
• Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.
• Intern Med J. 2024 Mar 1; 54 (3): 455460455-460.

BackgroundKennedy disease (KD) is a slowly progressive lower motor neuron degenerative disease. The prevalence of KD is unknown in India.AimTo describe the phenotypic and laboratory features of an Indian cohort of KD patients.MethodsA retrospective study was done on seven genetically confirmed KD patients based on demographic, clinical and laboratory details.ResultsMean age at onset and presentation was 37 ± 11.9 and 44.6 ± 13.5 years respectively. Progressive asymmetric proximal and distal limb weakness was the commonest symptom (57.1%). All patients had motor symptoms along with non-specific symptoms such as cramps from the onset. Easy fatigability, decremental response along with ptosis were noted in two patients, which was a novel finding. Gynaecomastia and tongue wasting with fasciculations were universal findings. All five patients with nerve conduction studies showed sensorimotor neuropathy. Magnetic resonance imaging muscle done in two patients showed a prominent moth-eaten appearance in the thigh and posterior leg compartment in one patient. The mean cytosine-adenine-guanine repeats were 44 ± 3.7, and there was no association between age of onset or severity with repeat length. Only one patient required an assistive device for ambulation after 15 years of symptom onset.ConclusionsThis study showed phenotypic heterogeneity in the Indian cohort. The age of onset was earlier with a slowly progressive indolent course as compared with other ethnic cohorts. This highlights the importance of considering the KD diagnosis in patients with the indolent course and suspected ALS diagnosis even with ptosis and fatigability in an appropriate clinical context.© 2023 Royal Australasian College of Physicians.

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