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Diagnostic gait pattern in a treatable neuromuscular disorder
*For correspondence: drlokeshsaini@gmail.com
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Received: ,
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This article was originally published by Wolters Kluwer - Medknow and was migrated to Scientific Scholar after the change of Publisher.
A eight yr old pre-morbid female child† presented to the Pediatric Neurology unit, Postgraduate Institute of Medical Education & Research, Chandigarh, India, in June 2019, with progressive difficulty in running and walking since the last six months. On examination, she had modified Gowers' sign, proximal weakness of the upper limbs in addition to proximal weakness of the lower limbs. She had a characteristic gait pattern which gave us a hint for the probable diagnosis (Video 1). Her muscle enzymes were normal and anti-AChR (acetylcholine receptor) antibodies were 100 times elevated. Repetitive nerve stimulation test showed decremental response over proximal muscles at 3 Hz at baseline (Figure). She responded to oral steroids and pyridostigmine dramatically (Video 2).
- Repetitive nerve stimulation test of the right deltoid muscle done at baseline at 3 Hz showing characteristic decremental response up to 17 per cent (arrows) and repair occurring after seventh wave suggestive of post-synaptic neurotransmission defect.
Children with limb girdle myasthenia have a characteristic gait resembling a 'slow catwalk' to prevent themselves from falling. Hence, like limb girdle myasthenia should be kept in mind on similar presentations as it can masquerade as muscular dystrophies.
Videos available at ijmr.org.in.
Acknowledgment:
Authors thank the parents of the patient for videos and adding to the literature.
Conflicts of Interest: None.
