| Título: | SPINAL MUSCULAR ATROPHY FROM NORTHERN IRAN: A CLINICAL AND GENETIC SPECTRUM OF TEN PATIENTS |
| Autores: |
Salehi Omran, M.R.; Pediatric Neurologist,Babol University of Medical Sciences Ghabeli Juibary, A.; General Physician |
| Fecha: | 2008-10-18 |
| Publicador: | Iranian Journal of Child Neurology |
| Fuente: |
 |
| Tipo: |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
| Tema: | No aplica |
| Descripción: | AbstractObjectiveAutosomal recessive spinal muscular atrophy (SMA) is, after cystic fibrosis, the second most common fatal monogenic disorder and the second most common hereditary neuromuscular disease after duchenne dystrophy. The disease is characterized by degeneration of anterior horn cells leading to progressiveparalysis with muscular atrophy. Depending on the clinical type (Werdnig- Hoffmann = type I, intermediate form = type II, Kugelberg-Welander = type III), some workers also have delineated an adult form of SMA (SMA type 4).SMA causes early death or increasing disability in childhood. The aim of this investigation was to describe the clinical findings of patients with spinal muscular atrophy (SMA) with survival motor neuron (SMN) gene deletion.Materials & methodsThis is a descriptive study conducted on 10 patients of SMA, confirmed by deletion of the SMN gene. All 10 patients had symmetrical muscle weakness, which was diffuse in those with onset of symptoms up to 1 months of age, and either proximal or predominant in lower limbs. Frequency determination of positive clinical and laboratory data was done according to revised diagnostic criteriaResultsIt was found that all patients with SMA had homozygous deletions of exons 7 and 8 of the survival motor neuron 1 (SMN1) gene, which is one of the candidate genes identified within 5q13. Fasciculations, atrophy and decreased DTR were frequent findings. Laboratory metabolic tests and all brain CT scans were normal. EMG and NCV findings, all showed normal motor and Sensory NCV and denervation of muscles of upper and lower extremities were compatible with a diagnosis of spinal muscular atrophy.ConclusionOur results confirm that SMN1 copy number analysis is an important parameter for identification of couples at risk of having a child affected with SMA and reduces unwarranted prenatal diagnosis for SMA.Keywords: Spinal muscular atrophy, SMN Gene, clinical findings, EMG, NCV |
| Idioma: | Inglés |
1 EFFECTS OF ORAL IRON SUPPLEMENT ON BREATH-HOLDING SPELLS IN CHILDREN por TONEKABONI MD, S.H.; Pediatric Neurologist, Assistant Professor of Shaheed Beheshti University of Medical Sciences Child neurology department, Mofid Children’s Hospital,ALAVI MD, S.; Assisstant professor ,Shaheed Beheshti Medical Sciences University, Mofid Children’s Hospital,MAHVELATI MD, F.; Pediatric Neurologist, Assistant Professor of Shaheed Beheshti University of Medical Sciences Child neurology department, Mofid Children’s Hospital,TABASI MD, Z.; Pediatrician | 6 A STUDY ON THE RISK FACTORS FOR OBSTETRICAL BRACHIAL PLEXUS PALSY por ASHRAFZADEH, Farah; Professor of Pediatric Neurology Mashhad University of Medical Sciences, Mashhad, Iran,BOSKABADI, Hasan; Associate Professor of Neonatology, Mashhad University of Medical Sciences, Mashhad, Iran,FARAJI RAD, Mohammad; Professor of Neurosurgery Mashhad University of Medical Sciences, Mashhad, Iran,SEYYED HOSSEINEE, Parisa; Medical student, Mashhad University of Medical Sciences, Mashhad, Iran |
2 Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia por BARZEGAR, Mohammad; Professor of pediatric Neurology,
Pediatric Health Research Center,
Tabriz University of Medical Sciences,
Tabriz, Iran,SAYADNASIRI, Mohammad; Assistant professor of Neurology, Department of Neurology, Qazvin University of Medical Sciences, Qazvin, Iran,TABRIZI, Aidin; Pediarician, Pediatric Health
Research Center, Tabriz University of
Medical Sciences,Tabriz, Iran | 7 Role and Function of Mitochondria por ZAMANI, Gholamreza; Pediatric Neurology Department,
Children’s Medical Center, Tehran
University of Medical Sciences,
Tehran, Iran |
3 Lysosomal Storage Disease in Iran (Report of Molecular Study) por HOUSHMAND, Massoud; 1. Assistant Professor of Human Molecular Genetics, Department of Medical Genetic, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran,TONEKABONI, Seyed Hassan; 2.Professor of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical sciences,Tehran, Iran,KARIMZADEH, Parvaneh; Professor of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical sciences,Tehran, Iran,ARYANi, Omid; Genetic Counselor, Medical Genetic Dep. Special Medical Center, Tehran, Iran,ASHRAFI, Mahmoudreza; Professor of Pediatric Neurology, Growth and Development
Research Center, Children´s Medical Center, Tehran University of Medical Science, Tehran, Iran,SALEHPOUR, Shadab; Associate Professor of Pediatric Endocrinology and Metabolism, Shahid Beheshti University of Medical Sciences, Tehran, Iran,BADV, Shervin; Assistant Professor of Pediatric Neurology, Zanjan University of Medical Sciences, Zanjan, Iran,SHAKIBA, Marjan; Associate Professor of Pediatric Endocrinology and Metabolism, Shahid Beheshti University of Medical Sciences, Tehran, Iran,ALAEE, Mohammad Reza; Associate Professor of Endocrinology, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran,FARSHIDI, Shahla; Nasle Omid Hope Foundation | 8 GRISCELLI SYNDROME; A CASE REPORT AND REVIEW OF THE LITERATURE por Shamsian MD, B.Sh.; Assistant professor, Department of pediatric hematology-oncology,Mofid children's hospital,Shaid BEheshti Medical University,Arzanian MD, M.T.; Assistant professor ,Cheif of hematology-oncology ward, Department of pediatric hematology-oncology, Shaid Beheshti Medical University,Alavi MD, S.; Assistant professor, Department of pediatric hematology-oncology, Namazi Hospital, Shiraz University of medical sciences,Zareifar MD, S.; Assistant professor, Department of pediatric hematology-oncology, Namazi Hospital, Shiraz University of medical sciences |
4 Downward Vertical Gaze Palsy As A Prominent Manifestation Of Episodic Ataxia Type 2: A Case Report por SHERVIN BADV, Reza; 1. Pediatric Neurologist,
Department of Pediatrics, Zanjan
University of Medical Sciences,
Zanjan, Iran,NIKSIRAT, Ali; 2. Legal Medicine Research
Center, Legal Medicine
Organization, Tehran, Iran | 9 ETHYLMALONIC ACIDURIA AND REPORT OF ONE CASE FROM IRAN por KARIMZADEH, Parvaneh; Associate Professor of Pediatric Neurology, Pediatric Neurology Research Center, ShahidBeheshti University of Medical Sciences, Mofid Children Hospital, Tehran, Iran |
5 NEONATAL SEIZURE: ETIOLOGY AND TYPE por Moayedi, A.R.; Pediatric Neurologist,Assistant Professor, Hormozgan University of Medical Sciences,Bandar Abbas,Zakeri, S.; Pediatrician, Hormozgan University of Medical Sciences,Moayedi, F.; General Physician | 10 EFFECT OF SENSORY INTEGRATION THERAPY ON GROSS MOTOR FUNCTION IN CHILDREN WITH CEREBRAL PALSY por Shamsoddini, A.R.; Master of Occupational therapy, Baqiyatallah university of Medical Sciences, Medical Faculty.,Hollisaz, M.T.; Professor of Physical Medicine and Rehabilitation, Baqiyatallah university of Medical Sciences, Medical Faculty. |