Search results for "BICD2"

showing 2 items of 2 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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Espectro clínico y genético de las neuropatías hereditarias motoras distales en la Comunidad Valenciana

2022

Las neuropatías hereditarias motoras distales (NHMd) son enfermedades neuromusculares de origen genético que se caracterizan por una degeneración de la parte motora de los nervios periféricos. Se engloban dentro de un grupo más amplio de neuropatías hereditarias llamadas neuropatías tipo Charcot- Marie-Tooth (CMT). Son enfermedades que afectan a gente joven y producen una discapacidad importante. Actualmente no disponemos de tratamiento que modifique el curso de las NHMd, por lo que los esfuerzos en investigación en este grupo de enfermedades son muy importantes. El diagnóstico y el estudio de la historia natural de las diferentes formas de NHMd es complicado porque son enfermedades poco fr…

atrofia espinal distalcomunidad valencianaBICD2DNAJB2prevalenciaUNESCO::CIENCIAS MÉDICAScharcot-marie-toothHSJ1:CIENCIAS MÉDICAS [UNESCO]neuropatía hereditaria motora distalSORD
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