November 8, 2019Journal of Neuromuscular DiseasesOpen Access

Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort

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Why the study?

Despite a genetic etiology, little is known about spinal muscular atrophy subtype concordance among siblings.

Population

303 sibships with SMA identified between 1996 and 2016

Design

Database cohort study

Authors

CJCynthia C. JonesAT&T (United States)SCSuzanne F. CookUniversity of Calgary JJJill JareckiCure Spinal Muscular Atrophy

Discussion

Member takes

Implication

High sibling concordance may inform SMA family counseling; leaves open mechanisms of discordance.

Structured PICO

Population

303 sibships with Spinal Muscular Atrophy (SMA) identified between 1996 and 2016 from the Cure SMA database.

Outcome

Subtype concordance among siblings with SMA

Most siblings with SMA share the same subtype (most commonly Type I), which is valuable for understanding familial occurrence and planning individual treatment.

Cite This Study

Jones et al. (2019) studied this question.

synapsesocial.com/papers/6a70320b26770c2b8de06209 https://doi.org/10.3233/jnd-190399

View Full Paper

Ask AI

Bookmark

Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider