What is the clinical evidence from this study?

Study design: Observational. Population: Anoctamin-5-related myopathy (n=38). Intervention: ANO5 mutations. Primary outcome: Presentation without muscle weakness.

What does this research mean for the field?

Asymptomatic or mild hyperCKemia and exercise intolerance are common clinical presentations of ANO5-related myopathy that can remain isolated or precede muscle weakness by multiple years. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

February 10, 2017Muscle & Nerve

Hyperckemia and myalgia are common presentations of anoctamin‐5‐related myopathy in French patients

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Key result

ANO5 mutation carriers present without muscle weakness in ~53% of cases.

n=38

Population

38 patients in France with anoctamin-5 (ANO5) mutations

Design

Cohort

Follow-up

median 5 years

Authors

CPConstantinos PapadopoulosNational and Kapodistrian University of Athens PLPascal LaforêtAssistance Publique – Hôpitaux de Paris JNJuliette NectouxUniversité Paris Cité

Discussion

Member takes

Implication

May reassure ANO5 carriers of possible prolonged stability without weakness; extends phenotypic spectrum but leaves optimal surveillance open.

Study Design

Type

Observational (n=38)

Structured PICO

Population

38 patients in France with ANO5 mutations, with and without muscle weakness on first examination, followed for a median of 5 years.

Comparator

Patients with and without muscle weakness on first examination

Outcome

Clinical presentation and progression of muscle weakness

Asymptomatic hyperCKemia or exercise intolerance can be an initial presentation of ANO5-related myopathy and may precede muscle weakness by many years.

Cite This Study

Papadopoulos et al. (2017) conducted an observational in Anoctamin-5-related myopathy (n=38). ANO5 mutations was evaluated on Presentation without muscle weakness. Among 38 patients with ANO5 mutations, 20 presented without muscle weakness, and 16 remained free of weakness after a median follow-up of 5 years.

synapsesocial.com/papers/6aa5ec3ec34c6f6bfa64c7d4 https://doi.org/10.1002/mus.25608

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Implication

May reassure ANO5 carriers of possible prolonged stability without weakness; extends phenotypic spectrum but leaves optimal surveillance open.

Hyperckemia and myalgia are common presentations of anoctamin‐5‐related myopathy in French patients

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Hyperckemia and myalgia are common presentations of anoctamin‐5‐related myopathy in French patients

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Also Consider

Also Consider