What question did this study set out to answer?

To delineate the clinical and genetic characteristics, natural history, and genotype-phenotype correlations in a large cohort of patients with anoctamin-5 (ANO5) related muscle disease.

March 13, 2023Brain

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort

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Authors

ABAlexander de Bruyn FMFederica MontagneseBavarian Nordic (Germany)SHSonja Holm‐YildizUniversity of Copenhagen

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Implication

Observational multicenter study reveals phenotypic variability and accelerated motor decline in males with anoctamin-5 disease, highlighting distinct loss-of-function progression rates.

Key Points

To delineate the clinical and genetic characteristics, natural history, and genotype-phenotype correlations in a large cohort of patients with anoctamin-5 (ANO5) related muscle disease.
Retrospective, observational, multicenter study evaluating 234 patients from 212 unrelated families across 15 neuromuscular centers in 11 European countries.
Categorized clinical presentations into limb-girdle muscular dystrophy type 12 (LGMD-R12), pseudometabolic myopathy, asymptomatic hyperCKaemia, and distal muscular dystrophy type 3 (MMD3), alongside ANO5 mutation screening.
LGMD-R12 was the most frequent presentation (52.6%), followed by pseudometabolic myopathy (20.5%), asymptomatic hyperCKaemia (13.7%), and MMD3 (13.2%), with an overall median symptom onset age of 33 years and 79.4% remaining ambulatory at last evaluation.
Male patients demonstrated a significantly higher risk of earlier walking aid requirement than females (P = 0.035), whereas cardiac and respiratory complications requiring medical intervention occurred very rarely.
Ninety-nine distinct pathogenic ANO5 variants were cataloged, with patients carrying two loss-of-function variants requiring walking aids significantly earlier (P = 0.037) and homozygous c.2272C>T carriers requiring walking aids significantly later (P = 0.043).

Cite This Study

Bruyn et al. (2023) studied this question.

synapsesocial.com/papers/6a97b6d9827cb52371a67436 https://doi.org/10.1093/brain/awad088

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Implication

Observational multicenter study reveals phenotypic variability and accelerated motor decline in males with anoctamin-5 disease, highlighting distinct loss-of-function progression rates.

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort

Discussion

Member takes

Implication

Key Points

Cite This Study

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort

Discussion

Member takes

Implication

Key Points

Cite This Study

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