Introduction Gyrate atrophy of the choroid and retina is a metabolic disorder, which is inherited in an autosomal recessive pattern. Although gyrate atrophy is rare, it is concerning as it results in blindness. It is characterized by hyperornithinemia, retinal atrophy, leads to progressive myopia and tunnel vision,...

spinal muscular atrophy (sma) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. the survival motor neuron (smn) protein level reduces in patients with sma. two different genes code survival motor neuron protein in human genome. skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...

Spinal muscular atrophy (SMA) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN) protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...

conclusions intra-ophthalmic artery melphalan is an effective treatment for advanced cases of retinoblastoma, with a reasonable level of success. in the short follow up period of this study, it appears that the primary cases showed better results in the control of tumor. background the management of retinoblastoma remains a challenge to the multidisciplinary team, particularly as treatment affe...

progressive hemifacial atrophy, also known as parry-romberg syndrome, is an uncommon degenerative and poorly understood condition. it is characterized by a slow and progressive but self-limited atrophy affecting one side of the face. the incidence and the cause of this alteration are unknown. a cerebral disturbance of fat metabolism has been proposed as a primary cause. possible factors that ar...

We report a rare genetic disorder case of neuroacanthocytosis with clinical profile (oro-lingual-facial abnormal involuntary movements, neuropathy) and typical magnetic resonance findings (cerebral atrophy, bilateral caudate nuclei atrophy with dilated anterior horns of the lateral ventricles), positive family history in his brother and acanthocytosis in peripheral blood smear.

how to cite this article: rashnonejad a, onay h, atik t, atan sahin o, gokben s, tekgul h, ozkinay f. molecular genetic analysis of survival motor neuron gene in 460 turkish cases with suspicious spinal muscular atrophy disease. iran j child neurol. autumn 2016; 10(4):30-35. abstract objective to describe 12 yr experience of molecular genetic diagnosis of spinal muscular atrophy (sma) in 460 ca...