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Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum
- Source :
- JOURNAL OF NEUROLOGY, r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe, instname
- Publication Year :
- 2020
- Publisher :
- SPRINGER HEIDELBERG, 2020.
-
Abstract
- Background The ANO5 gene encodes for anoctamin-5, a chloride channel involved in muscle cell membrane repair. Recessive mutations in ANO5 are associated with muscular diseases termed anoctaminopathies, which are characterized by proximal or distal weakness, or isolated hyperCKemia. We present the largest series of patients with asymptomatic/paucisymptomatic anoctaminopathy reported so far, highlighting their clinical and radiological characteristics. Methods Twenty subjects were recruited retrospectively from the Neuromuscular Disorders Units database of two national reference centers. All had a confirmed genetic diagnosis (mean age of diagnosis was 48 years) established between 2015 and 2019. Clinical and complementary data were evaluated through clinical records. Results None of the patients complained about weakness or showed abnormal muscular balance. Among paucisymptomatic patients, the main complaints or findings were generalized myalgia, exercise intolerance and calf hypertrophy, occasionally associated with calf pain. All patients showed persistent hyperCKemia, ranging from mild-moderate to severe. Muscle biopsy revealed inflammatory changes in three cases. Muscle magnetic resonance imaging revealed typical signs (preferential involvement of adductor and gastrocnemius muscles) in all but one patient. In two cases, abnormal findings were detectable only in STIR sequences (not in T1). Three patients showed radiological progression despite remaining asymptomatic. Twelve different mutations in ANO5 were detected, of which seven are novel. Conclusions Recessive mutations in ANO5 are a frequent cause of undiagnosed asymptomatic/paucisymptomatic hyperCKemia. Patients with an apparent indolent phenotype may show muscle involvement in complementary tests (muscle biopsy and imaging), which may progress over time. Awareness of anoctaminopathy as the cause of nonspecific muscular complaints or of isolated hyperCKemia is essential to correctly diagnose affected patients.
- Subjects :
- Weakness
medicine.medical_specialty
Neurology
Exercise intolerance
Calf hypertrophy
Anoctamins
Asymptomatic
Gastroenterology
03 medical and health sciences
0302 clinical medicine
Muscular Diseases
Chloride Channels
Internal medicine
medicine
Myocyte
Humans
030212 general & internal medicine
Muscle, Skeletal
Neuroradiology
Retrospective Studies
Muscle biopsy
medicine.diagnostic_test
business.industry
ANO5 gene
Magnetic resonance imaging
Asymptomatic hyperCKemia
Middle Aged
STIR sequences
Mutation
Neurology (clinical)
medicine.symptom
business
030217 neurology & neurosurgery
Inflammatory biopsy
Subjects
Details
- ISSN :
- 03405354
- Database :
- OpenAIRE
- Journal :
- JOURNAL OF NEUROLOGY, r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe, instname
- Accession number :
- edsair.doi.dedup.....380a1f00d36874638967d6d41ea662ef