Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations

Nanna Witting; Ulla Werlauff; Morten Duno; John Vissing

doi:10.1002/mus.24765

Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations

Nanna Witting, Ulla Werlauff, Morten Duno, John Vissing

Institut for Klinisk Medicin

14 Citationer (Scopus)

Abstract

INTRODUCTION: Congenital myopathy due to mutations in the α-actin 1 gene (ACTA1) was identified in 1999, but knowledge of prevalence and phenotype in patients who survive 5 years is lacking.

METHODS: A national cohort of 91 patients aged ≥5 years and diagnosed with congenital myopathy was assessed for ACTA1 mutations and investigated clinically.

RESULTS: Four patients with ACTA1 mutations were identified, yielding a prevalence of 4.4%. Patients were 10-23 years of age, and all but 1 were ambulatory. Vital capacity ranged from 47% to 70% predicted, and 1 patient needed nocturnal bi-level positive airway pressure. Limb flexor/extensor muscles and upper and lower extremities were affected equally. Pronounced neck flexor weakness was noted.

CONCLUSIONS: Congenital myopathy caused by ACTA1 mutations is fatal in infancy in most cases. This study shows that the prevalence of α-actin myopathy in older patients with congenital myopathy is not negligible and that phenotypes can be quite mild.

Originalsprog	Engelsk
Tidsskrift	Muscle & Nerve
Vol/bind	53
Udgave nummer	3
Sider (fra-til)	388-93
Antal sider	6
ISSN	0148-639X
DOI	https://doi.org/10.1002/mus.24765
Status	Udgivet - 1 mar. 2016

Adgang til dokumentet

10.1002/mus.24765

Citationsformater

@article{f010e5aa901744c190cb4d2f6cc0e94b,

title = "Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations",

abstract = "INTRODUCTION: Congenital myopathy due to mutations in the α-actin 1 gene (ACTA1) was identified in 1999, but knowledge of prevalence and phenotype in patients who survive 5 years is lacking.METHODS: A national cohort of 91 patients aged ≥5 years and diagnosed with congenital myopathy was assessed for ACTA1 mutations and investigated clinically.RESULTS: Four patients with ACTA1 mutations were identified, yielding a prevalence of 4.4%. Patients were 10-23 years of age, and all but 1 were ambulatory. Vital capacity ranged from 47% to 70% predicted, and 1 patient needed nocturnal bi-level positive airway pressure. Limb flexor/extensor muscles and upper and lower extremities were affected equally. Pronounced neck flexor weakness was noted.CONCLUSIONS: Congenital myopathy caused by ACTA1 mutations is fatal in infancy in most cases. This study shows that the prevalence of α-actin myopathy in older patients with congenital myopathy is not negligible and that phenotypes can be quite mild.",

author = "Nanna Witting and Ulla Werlauff and Morten Duno and John Vissing",

note = "{\textcopyright} 2015 Wiley Periodicals, Inc.",

year = "2016",

month = mar,

day = "1",

doi = "10.1002/mus.24765",

language = "English",

volume = "53",

pages = "388--93",

journal = "Muscle & Nerve",

issn = "0148-639X",

publisher = "JohnWiley & Sons, Inc.",

number = "3",

}

TY - JOUR

T1 - Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations

AU - Witting, Nanna

AU - Werlauff, Ulla

AU - Duno, Morten

AU - Vissing, John

PY - 2016/3/1

Y1 - 2016/3/1

N2 - INTRODUCTION: Congenital myopathy due to mutations in the α-actin 1 gene (ACTA1) was identified in 1999, but knowledge of prevalence and phenotype in patients who survive 5 years is lacking.METHODS: A national cohort of 91 patients aged ≥5 years and diagnosed with congenital myopathy was assessed for ACTA1 mutations and investigated clinically.RESULTS: Four patients with ACTA1 mutations were identified, yielding a prevalence of 4.4%. Patients were 10-23 years of age, and all but 1 were ambulatory. Vital capacity ranged from 47% to 70% predicted, and 1 patient needed nocturnal bi-level positive airway pressure. Limb flexor/extensor muscles and upper and lower extremities were affected equally. Pronounced neck flexor weakness was noted.CONCLUSIONS: Congenital myopathy caused by ACTA1 mutations is fatal in infancy in most cases. This study shows that the prevalence of α-actin myopathy in older patients with congenital myopathy is not negligible and that phenotypes can be quite mild.

AB - INTRODUCTION: Congenital myopathy due to mutations in the α-actin 1 gene (ACTA1) was identified in 1999, but knowledge of prevalence and phenotype in patients who survive 5 years is lacking.METHODS: A national cohort of 91 patients aged ≥5 years and diagnosed with congenital myopathy was assessed for ACTA1 mutations and investigated clinically.RESULTS: Four patients with ACTA1 mutations were identified, yielding a prevalence of 4.4%. Patients were 10-23 years of age, and all but 1 were ambulatory. Vital capacity ranged from 47% to 70% predicted, and 1 patient needed nocturnal bi-level positive airway pressure. Limb flexor/extensor muscles and upper and lower extremities were affected equally. Pronounced neck flexor weakness was noted.CONCLUSIONS: Congenital myopathy caused by ACTA1 mutations is fatal in infancy in most cases. This study shows that the prevalence of α-actin myopathy in older patients with congenital myopathy is not negligible and that phenotypes can be quite mild.

U2 - 10.1002/mus.24765

DO - 10.1002/mus.24765

M3 - Journal article

C2 - 26172852

SN - 0148-639X

VL - 53

SP - 388

EP - 393

JO - Muscle & Nerve

JF - Muscle & Nerve

IS - 3

ER -

Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations

Abstract

Adgang til dokumentet

Fingeraftryk

Citationsformater