Search results for " spinal muscular atrophy"

showing 3 items of 3 documents

Clinical spectrum of BICD2 mutations.

2020

Background and purpose Mutations in the BICD2 gene cause autosomal dominant lower extremity-predominant spinal muscular atrophy 2A (SMALED2A), a condition that is associated with a specific pattern of thigh and calf muscle involvement when studied by magnetic resonance imaging (MRI). Patients may present minor clinical sensory impairment, but objective sensory involvement has yet to be demonstrated. Methods We collected clinical data from 11 patients from five different families carrying mutations in BICD2. Genetic diagnosis was achieved using gene panel testing and skin biopsies were taken from two patients to study the epidermal nerve fiber density. Results In the studied patients, three …

Pathologymedicine.medical_specialtyWeaknessSensory systemNerve fiberBICD2 Charcot-Marie-Tooth hereditary motor neuropathy muscle magnetic resonance imaging spinal muscular atrophyThighmedicine.disease_causeMuscular Atrophy Spinal03 medical and health sciences0302 clinical medicineCharcot-Marie-Tooth DiseasemedicineHumans030212 general & internal medicineMuscle SkeletalMutationLegmedicine.diagnostic_testbiologybusiness.industryMagnetic resonance imagingSpinal muscular atrophymedicine.diseasebiology.organism_classificationMagnetic Resonance ImagingMediusmedicine.anatomical_structureNeurologyMutationNeurology (clinical)medicine.symptombusinessMicrotubule-Associated Proteins030217 neurology & neurosurgery
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Ultrasound-guided lumbar puncture for nusinersen administration in spinal muscular atrophy patients.

2020

Background and purpose The purpose was to report the results of ultrasound-guided lumbar puncture for the administration of nusinersen in spinal muscular atrophy (SMA) patients with complex spines. Methods Eighteen SMA patients (five children, five adolescents and eight adults) with either severe scoliosis or spondylodesis were evaluated for ultrasound-guided lumbar puncture. Ultrasound was performed with a 3.5 MHz transducer to guide a 22 gauge × 15 mm needle, which was placed in the posterior lumbar space following a parasagittal interlaminar approach. Results Twelve patients had undergone spinal instrumentation (nine growing rods and three spinal fusion) whilst the other six showed sever…

Adultmusculoskeletal diseasesmedicine.medical_specialtyAdolescentlumbar puncture nusinersen spinal muscular atrophy ultrasound complex spine and intrathecalmedicine.medical_treatmentOligonucleotidesSpinal PunctureMuscular Atrophy Spinal03 medical and health sciences0302 clinical medicineLumbarmedicineHumans030212 general & internal medicineAdverse effectChildUltrasonography Interventionalmedicine.diagnostic_testbusiness.industryLumbar punctureUltrasoundSpinal muscular atrophySMA*medicine.diseaseSurgeryNeurologySpinal fusionNusinersenNeurology (clinical)business030217 neurology & neurosurgery
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Carrier screening for spinal muscular atrophy in Italian population

2014

Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder characterized by motor neuron degeneration in the anterior horn of the spinal cord and brain stem, resulting in progressive muscle weakness and atrophy. The responsible survival motor neuron gene (SMN1; HGNC: 11117) is localized in 5q11.2-13.3. Screening for carriers of SMA is necessary for effective clinical/prenatal diagnosis and genetic counselling. In this study, the copy number of SMN1 gene was determined from a southern Italian population to estimate carrier frequency. This is the first report addressing the estimation of SMA carrier frequency in an Italian population. Our results show that the SMA carrier …

HeterozygoteGenetic counselingGene DosagePhysiologycarrier screeningPrenatal diagnosisSMN1BiologyCarrier testingMuscular Atrophy SpinalAtrophyGene FrequencySettore BIO/13 - Biologia ApplicataPrevalenceGeneticsmedicineHumansGenetic Testingspinal muscular atrophysurvival motor neuron gene (SMN1); spinal muscular atrophy; carrier screening; MLPAExonsSpinal muscular atrophyMotor neuronSMA*medicine.diseaseSurvival of Motor Neuron 1 ProteinMLPAmedicine.anatomical_structureItalysurvival motor neuron gene (SMN1)Journal of Genetics
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