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Longitudinal assessments in discordant twins with SMA
- Source :
- Neuromuscular disorders : NMD. 27(10)
- Publication Year :
- 2017
-
Abstract
- We report longitudinal clinical and neurophysiological assessments in twins affected by spinal muscular atrophy (SMA) with discordant phenotypes. The boy had the homozygous deletion of SMN1, a typical type 1 SMA course, and died at the age of eight months. His twin sister, asymptomatic at the time of the diagnosis in her brother, had the same genetic defect but she developed clinical and electrophysiological signs of type 2 SMA. The reduction of tendon reflexes was the first clinical sign at the age of 4 months, followed within few weeks, by a mild decrement in the amplitude of the compound motor action potentials. After the age of 9 months, she showed a sudden clinical and electrophysiological deterioration. Among molecular tests, we determined SMN2 copy number, SMN2 and Plastin 3 transcript levels in peripheral blood, and observed no relevant differences between twins.
- Subjects :
- 0301 basic medicine
Male
medicine.medical_specialty
Pediatrics
Gene Dosage
SMN1
Asymptomatic
Muscular Atrophy, Spinal
03 medical and health sciences
0302 clinical medicine
medicine
Humans
Genetics (clinical)
Sequence Deletion
Motor Neurons
business.industry
Homozygote
Infant
Spinal muscular atrophy
medicine.disease
SMA
Survival of Motor Neuron 1 Protein
Peripheral blood
Surgery
Tendon
Pedigree
030104 developmental biology
medicine.anatomical_structure
Phenotype
Neurology
Pediatrics, Perinatology and Child Health
Reflex
Female
Neurology (clinical)
Motor action
medicine.symptom
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 18732364
- Volume :
- 27
- Issue :
- 10
- Database :
- OpenAIRE
- Journal :
- Neuromuscular disorders : NMD
- Accession number :
- edsair.doi.dedup.....f351533c3a29beabb7ce1833a0e65f2f