neuromuscular disorders encompass a broad spectrum of disorders from the anterior horn cell to the muscle tissue itself. the given condition can be either genetic or acquired. these group of disorders are diagnostically challenging as many of them also pose other systemic findings. one example would the commonly seen mental retardation in duchenne muscular dystrophy. from the practical point of...

Case presentation: Male patient, 1 year-old, born and resident in Maranhão. Mother reported reduced fetal movement, after birth some dysmorphisms were identified such as deformity the lower limbs, characterized by arthrogryposis, bilateral congenital clubfoot, dislocation of hip fracture right femur perceived on fifth day life. During development, generalized hypotonia significant motor delay n...

Congenital insensitivity to pain or more scientifically Hereditary sensory and autonomic neuropathies (HSAN) is a rare genetic disorder which associates dysfunction with varying degree of dysfunction. Due the peripheral neuropathy, decreased sensitivity even complete anesthesia may be present resulting in, on ophthalmological level, neurotrophic ulcers. We report case 2 sisters (JM KM) presenti...

Pain is necessary to alert us to actual or potential tissue damage. Specialized nerve cells in the body periphery, so called nociceptors, are fundamental to mediate pain perception and humans without pain perception are at permanent risk for injuries, burns and mutilations. Pain insensitivity can be caused by sensory neurodegeneration which is a hallmark of hereditary sensory and autonomic neur...

Polymorphism in the peripheral sensory system (e.g., congenital individual differences in photopigment configuration) is important in diverse research fields, ranging from evolutionary biology to engineering, because of its potential relationship to the cognitive and behavioral variability among individuals. However, there is a gap between the current understanding of sensory polymorphism and t...

We report a rare case of congenital absence of the L5-S1 facet joint, which was associated with a conjoined nerve root. Combination of these two anomalies has been quite rarely reported in the literature. A 39-year-old man presented with acute low back pain and right leg radiating pain. Muscle weakness and sensory disturbance of the right leg were also apparent in the region innervated by L5 an...

OBJECTIVE Previous case reports supported the presence of the uncrossed pyramidal tract in exceptional patients. However, most of these case reports have not fully discussed involvement of the motor cortex controlling the ipsilateral limbs. DESIGN AND METHOD The authors investigated a 62-year-old man who developed right hemiparesis after right putaminal hemorrhage by using MRI, transcranial m...

BACKGROUND Almost 90% of all cases of congenital, non-syndromic, severe to profound inherited deafness display an autosomal recessive mode of transmission (DFNB forms). To date, 47 causal DFNB genes have been identified, but many others remain to be discovered. We report the study of two siblings born to consanguineous Algerian parents and affected by isolated, profound congenital deafness. M...

Introduction The authors of this paper have compiled a report on the prevalence deafblindness and dual-sensory loss based review existing estimates. purpose is to inform readers importance using consistent, well-researched definitions survey questions in future studies. Methods Articles were extracted through ProQuest EBSCOhost, online library databases Cambrian College Laurentian University. K...