Department of Neurology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
Abstract: (592 Views)
A 27-year-old man presented with a progressive proximal weakness in upper and lower limbs from 6 years ago. He had problem in climbing stair and sitting up and also combing hair, following by distal weakness. He complained myalgia and cramp but without ptosis, ophthalmoparesis, dysphagia and cardiac or respiratory problems. His medical and developmental history was unremarkable. His family history was unremarkable. His parents are relatives.
In neurological examination, cranial nerves were intact and without any facial weakness or gaze palsy. Tongue was midline with normal movements and no atrophy or fasciculation. Neck flexor and extensor strength was 5/5. Severe lordosis and spinal rigidity were seen. Force of bilateral upper limbs was -4/5 in proximal and +4/5 in distal. Bilateral thenar atrophy was detected. In the lower limbs, Quadriceps and iliopsoas strength was +4/5, Hamstring muscles strength was -4/5 and in distal was 4/5 symmetrically. Also atrophy in leg and distal of thigh were detected. DTR was absent generally in upper and lower limbs. Mild proximal contracture was detected. There was no myotonia, distal joint laxity and scapular winging. Sensory and cerebellar examination were normal. He had a waddling gait. He had a difficulty in walking on his heels and toes. Gowerchr('39')s sign was positive. The Electrodiagnostic study revealed nonirritable myopathy. Muscle MRI findings consistent with collagen VI–related muscular dystrophy. To confirm the diagnosis, muscle biopsy and genetic analysis is suggested.
Type of Study:
case report |
Subject:
vascular neurological diseases Received: 2021/10/26 | Accepted: 2021/10/2 | Published: 2021/10/2