Kiran Polavarapu, Daniel O'Neil, Rachel Thompson, Sally Spendiff, Bevinahalli Nandeesh, Seena Vengalil, Akshata Huddar, Dipti Baskar, Gautham Arunachal, Ananthapadmanabha Kotambail, Saloni Bhatia, Seetam Kumar Tumulu, Leslie Matalonga, Ana Töpf, Steven Laurie, Joshua Zeldin, Saraswati Nashi, Gopikrishnan Unnikrishnan, Atchayaram Nalini, Hanns Lochmüller
Recessive desminopathies are rare and often present as severe early-onset myopathy. Here we report a milder phenotype in three unrelated patients from southern India (2 M, 1F) aged 16, 21, and 22 years, who presented with childhood-onset, gradually progressive, fatigable limb-girdle weakness, ptosis, speech and swallowing difficulties, without cardiac involvement. Serum creatine kinase was elevated, and repetitive nerve stimulation showed decrement in all. Clinical improvement was noted with pyridostigmine and salbutamol in two patients...
March 22, 2024: Neuromuscular Disorders: NMD