What does this research mean for the field?

A newly identified variant of autosomal dominant scapuloperoneal syndrome is characterized by early onset, rapid progression, early muscle contractures, and severe cardiomyopathy. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

December 1, 1981Journal of Neurology Neurosurgery & PsychiatryOpen Access

Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features.

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Population

4 members of a family with scapuloperoneal syndrome

Design

Case_series

Authors

ACA. ChakrabartiKIIT University JPJ. PearceNorthern Illinois University

Discussion

Member takes

Implication

May prompt cardiomyopathy screening in scapuloperoneal myopathy families; extends phenotypic spectrum but leaves genetic validation open.

Structured PICO

Population

4 members of a family with scapuloperoneal syndrome

This report identifies a new variant of autosomal dominant scapuloperoneal syndrome characterized by early onset, rapid progression, and severe cardiomyopathy.

Cite This Study

Chakrabarti et al. (1981) studied this question.

synapsesocial.com/papers/6a1df36ea3f4c58cc9351aa3 https://doi.org/10.1136/jnnp.44.12.1146

Topics

Cardiomyopathy

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Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Topics

Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Topics

Also Consider