Search results for " muscle magnetic resonance imaging"

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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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