What does this research mean for the field?

A distinct X-linked recessive myopathic syndrome exists, characterized by childhood-onset scapuloperoneal weakness, elbow contractures, pes cavus, adult-onset cardiomyopathy, and genetic linkage to deutan color blindness. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.ESTABLISHES_NEW_DIRECTION.

April 1, 1972Journal of Neurology Neurosurgery & PsychiatryOpen Access

X-linked scapuloperoneal syndrome

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Population

A family with muscular weakness and wasting with childhood onset, predominantly affecting proximal upper…

Design

Case_series

Authors

PTP. K. ThomasUniversity of London DCD. B. CalneUniversity of British Columbia Hospital CECharlotte ElliottHarrogate and District NHS Foundation Trust

Discussion

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Implication

Hypothesis-generating for X-linked cardiomyopathy syndromes; leaves open need for validation before clinical adoption.

Structured PICO

Population

A family with muscular weakness and wasting with childhood onset, predominantly affecting proximal upper limb and distal lower limb muscles, accompanied by contractures of elbows, pes cavus, and adult-onset cardiomyopathy.

Outcome

Clinical features and inheritance pattern

Describes a distinct X-linked recessive scapuloperoneal syndrome associated with adult-onset cardiomyopathy.

Cite This Study

Thomas et al. (1972) studied this question.

synapsesocial.com/papers/6a1df36ea3f4c58cc9351aa7 https://doi.org/10.1136/jnnp.35.2.208

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X-linked scapuloperoneal syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

X-linked scapuloperoneal syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider