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Published on: March 7, 2019
Intramuscular interstitial amyloid deposition does not impact anoctaminopathy-5 phenotype
Charenya Anandan1, Margherita Milone1, Teerin Liewluck1
1Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.
Introduction:
Recessive mutations in the anoctamin-5-encoding gene (ANO5) cause muscular dystrophy of various phenotypes. Intramuscular interstitial amyloid deposits were detected in a few patients with anoctaminopathy-5, some with cardiac involvement. The frequency of amyloid deposition in anoctaminopathy-5 and its impact on phenotype are unknown.
Methods:
We retrospectively identified patients with genetically proven anoctaminopathy-5 who had undergone muscle biopsy and reviewed their clinical and laboratory data.
Results:
Eight of 15 patients with anoctaminopathy-5 had intramuscular interstitial amyloid deposits. The median age at onset of weakness was 40 and 45 years in the amyloidosis and nonamyloidosis groups, respectively. Mutations occurred throughout the entire gene in the amyloidosis group. Atrial arrhythmia was noted in 4 patients with amyloidosis and in 4 patients without amyloidosis. The latter group also had premature ventricular contractions. One nonamyloidosis patient had septal hypokinesia.
Discussion:
Intramuscular amyloidosis occurred in 53% of patients with anoctaminopathy-5 who underwent muscle biopsy and had no impact on the phenotype. Muscle Nerve 59:133-137, 2019.
Insights
Intramuscular amyloid deposits were found in 53% of patients with anoctaminopathy-5, but did not affect the disease phenotype. This finding is important for understanding anoctaminopathy-5 progression.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Recessive mutations in the anoctamin-5 (ANO5) gene cause muscular dystrophy.
- Amyloid deposits have been observed in some patients with anoctaminopathy-5, but their prevalence and impact are unclear.
Purpose of the Study:
- To determine the frequency of intramuscular interstitial amyloid deposits in patients with anoctaminopathy-5.
- To investigate the impact of amyloid deposition on the clinical phenotype of anoctaminopathy-5.
Main Methods:
- Retrospective review of clinical and laboratory data from patients with genetically confirmed anoctaminopathy-5.
- Analysis of muscle biopsy results to identify amyloid deposits.
Main Results:
- Intramuscular amyloid deposits were present in 8 out of 15 (53%) patients with anoctaminopathy-5.
- No significant difference in age at onset of weakness or cardiac involvement was observed between patients with and without amyloid deposits.
- Mutations were found throughout the ANO5 gene in the amyloidosis group.
Conclusions:
- Intramuscular amyloidosis is common in patients with anoctaminopathy-5 who undergo muscle biopsy.
- Amyloid deposition does not appear to influence the phenotype or cardiac involvement in anoctaminopathy-5.
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