Background: XLMTM is a rare, currently untreated, life-threatening congenital myopathy caused by mutations in the MTM1 gene, with profound muscle weakness and impairment of motor development, respiratory failure, chronic ventilator dependency.

Background: Guillain-Barré syndrome is an autoimmune inflammatory disease, which manifests itself as an acute motor weakness of the organs, diagnosed as affecting the motor spinal nerve roots generally and causing muscle and motor weakness, the cause of this disease is the presence of active antibodies against the myelin sheath around the spinal nerve roots. Guillain-Barré syndrome is the most ...

We report a 51-year-old male with a history of palpitations, hepatopathy and hypercholesterolemia, who habitually ate raw goat meat, and developed general fasciculations, muscle cramps in the lower limbs, distal muscle weakness and wasting, without upper motor neuron signs or sensory abnormalities. Diagnostic workup revealed positive antibodies against Toxocara canis in the serum and cerebrospi...

Motor neuron diseases (MNDs) refer to a heterogeneous group of progressive neurologic disorders caused by degeneration of motor neurons. The diseases affect either the upper motor neurons, lower motor neurons, or both, and are characterized by weakness, atrophy, fasciculation, spasticity, and respiratory failure. We report a case of a 61-year-old male patient with no past history of cardiovascu...

Idiopathic CD4(+) T-lymphocytopenia is a rare immune disorder characterized by an unexplained deficit of CD4(+) T cells and results in various opportunistic infections. Herein, we report a case of new onset weakness in a 10-year-old boy secondary to motor axonal neuropathy associated with idiopathic CD4(+) T-lymphocytopenia. The patient was referred to rehabilitation for an evaluation of progre...

سخن سردبیر editorial مجله دانشگاه علوم پزشکی رفسنجان دوره پانزدهم، شهریور 1395، 502-501 ضعف نظام نوین انتشارات در انتخاب داوران مناسب the weakness of modern publishing system in identyfing suitable reviewers محسن رضائیان[1] m. rezaeian یکی از مهم ترین مشکلاتی که سردبیران و گردانندگان مجلات علمی با آن روبه رو هستند، پیدا کردن فردی مناسب برای داوری کردن مقالات می باشد. با رشد روز افزون دانش در حو...

Distal hereditary motor neuropathies represent a group of rare genetic disorders characterized by progressive distal motor weakness without sensory loss. Their genetic heterogeneity is high and thus eligible for diagnostic whole exome sequencing. The authors report successful application of whole exome sequencing in diagnosing a second consanguineous family with distal hereditary motor neuropat...