A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties

Kadoya, Masato; Ogata, Katsuhisa; Suzuki, Mikiya; Honma, Yutaka; Momma, K.; Yatabe, Kana; Tamura, Takuhisa; Kaida, Kenichi; Miyata, Naomasa; Nishino, Ichizo; Nonaka, Ikuya; Kawai, Mitsuru

doi:10.1016/j.nmd.2017.01.012

Cited by 8 publications

(16 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…By contrast, only a few cases were reported in non-European countries. [ 6 , 12 , 13 ] Typically, physical examination and neuroimaging suggest asymmetric muscle fatigue, and EMG reveals myogenic changes accompanied by increased CK blood values. Patients may be asymptomatic or show nonspecific symptoms such as muscle stiffness, cramps, exercise intolerance, or exercise myalgia rather than notable muscle weakness, especially in females.…”

Section: Discussionmentioning

confidence: 99%

“…Because LGMD2L is an indolent disease, that is, it progresses slowly, patients can retain their walking ability for decades, with normal heart and respiratory function, and have the same overall life expectancy as the general population. [ 15 ] In 2016, Kadoya et al [ 6 ] confirmed the first LGMD2L patient in Japan, who was a 60-year-old male, with initial symptoms of muscle stiffness and muscle cramps, accompanied by significantly elevated CK. However, with further progression of the disease, proximal limb weakness and bilateral gastrocnemius hypertrophy gradually appeared.…”

Section: Discussionmentioning

confidence: 99%

“…[ 4 ] To date, most LGMD2L and ANO5 gene mutations have been reported in European countries. [ 5 ] In Asia, it wasn’t until 2016 that Kadoya et al confirmed the first case of LGMD2L in Japan, [ 6 ] and then Yun Yuan et al reported the first LGMD2L patient in China in 2017. [ 7 ] However, the case report was without detailed clinical data such as clinical symptoms, muscle imaging, and gene mutation analysis.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

First familial limb-girdle muscular dystrophy 2L in China

Xiong²,

Zhou

et al. 2018

Medicine

View full text Add to dashboard Cite

Limb-girdle muscular dystrophy 2L (LGMD2L) is mainly characterized by late adult onset, atrophy of proximal muscles, chronic progressive and asymmetric weakness, accompanied by increased creatine kinase (CK) levels, dystrophic pathological changes and electromyography showing myogenic damage. To date, familial LGMD2L was reported in European countries and had not been reported in China.A careful investigation of the clinical manifestations, muscle performance imaging, biopsy, and target next-generation sequencing (NGS) technology was utilized to identify pathogenic genetic variants in a 4-generation pedigree that includes 6 affected individuals.The results revealed mild-to-moderate hypertrophy of bilateral gastrocnemii and slight weakness and atrophy in the proximal muscles of the lower limbs, with obviously increased serum creatine kinase levels. The symptoms were more serious in the male proband but were also observed in females. Obvious and symmetric atrophy and fat infiltration of posterior segments of the thigh was evident in muscle magnetic resonance imaging (MRI). The pathological changes included a small amount of atrophic and hypertrophic fibers, scattered necrotizing fibers, a small number of increased nuclei, inward migration, mild proliferation of interstitial connective tissue, and no inflammatory cell infiltration. The pathogenic allele was a c.220C > T mutation in the anoctamin 5 (ANO5) gene.The LGMD2L family was characterized by mild chronic myopathy and bilateral gastrocnemius hypertrophy with obviously increased CK levels. Pathological changes included atrophy of fibers with interstitial connective tissues hyperplasia. The pathogenic allele was a c.220C> T mutation in the ANO5 gene.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

First familial limb-girdle muscular dystrophy 2L in China

Xiong²,

Zhou

et al. 2018

Medicine

View full text Add to dashboard Cite

show abstract

“…Such genetic background may explain that 31 of 34 (91%) of our families had at least one of the three common variants described in Europe. Interestingly, the incidence of ANO5 myopathy seems to be very low in non‐European origin populations, and the few cases reported in Asian patients did not include these frequent variants . These findings may corroborate the founder effect of the c.191dupA and c.2272C > T from the European population.…”

Section: Discussionmentioning

confidence: 69%

“…Studies describing the clinical and genetic patterns of anoctaminopathies from patients outside Europe are scarce, except for new small reports of families from China, Japan, and Saudi Arabia . Recently, with the advent of next‐generation sequence (NGS), patients with ANO5 mutations have been detected in Brazil.…”

Section: Introductionmentioning

confidence: 99%

Clinical and molecular findings in a cohort of ANO5‐related myopathy

Silva

Coimbra-Neto

Souza

et al. 2019

Ann Clin Transl Neurol

View full text Add to dashboard Cite

Objective ANO5‐related myopathy is an important cause of limb‐girdle muscular dystrophy (LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts, and the burden of the disease worldwide is unclear. We provide a detailed characterization of a large Brazilian cohort of ANO5 patients. Methods A national cross‐sectional study was conducted to describe clinical, histopathological, radiological, and molecular features of patients carrying recessive variants in ANO5. Correlation of clinical and genetic characteristics with different phenotypes was studied. Results Thirty‐seven patients from 34 nonrelated families with recessive mutations of ANO5 were identified. The most common phenotype was LGMD, observed in 25 (67.5%) patients, followed by pseudometabolic presentation in 7 (18.9%) patients, isolated asymptomatic hyperCKemia in 4 (10.8%) patients, and distal myopathy in a single patient. Nine patients presented axial involvement, including one patient with isolated axial weakness. The most affected muscles according to MRI were the semimembranosus and gastrocnemius, but paraspinal and abdominal muscles, when studied, were involved in most patients. Fourteen variants in ANO5 were identified, and the c.191dupA was present in 19 (56%) families. Sex, years of disease, and the presence of loss‐of‐function variants were not associated with specific phenotypes. Interpretation We present the largest series of anoctaminopathy outside Europe. The most common European founder mutation c.191dupA was very frequent in our population. Gender, disease duration, and genotype did not determine the phenotype.

show abstract

A Journey with LGMD: From Protein Abnormalities to Patient Impact

Georganopoulou¹,

Moisiadis²,

Malik³

et al. 2021

Protein J

View full text Add to dashboard Cite

The limb-girdle muscular dystrophies (LGMD) are a collection of genetic diseases united in their phenotypical expression of pelvic and shoulder area weakness and wasting. More than 30 subtypes have been identified, five dominant and 26 recessive. The increase in the characterization of new genotypes in the family of LGMDs further adds to the heterogeneity of the disease. Meanwhile, better understanding of the phenotype led to the reconsideration of the disease definition, which resulted in eight old subtypes to be no longer recognized officially as LGMD and five new diseases to be added to the LGMD family. The unique variabilities of LGMD stem from genetic mutations, which then lead to protein and ultimately muscle dysfunction. Herein, we review the LGMD pathway, starting with the genetic mutations that encode proteins involved in muscle maintenance and repair, and including the genotype–phenotype relationship of the disease, the epidemiology, disease progression, burden of illness, and emerging treatments.

show abstract

A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties

Cited by 8 publications

References 11 publications

First familial limb-girdle muscular dystrophy 2L in China

First familial limb-girdle muscular dystrophy 2L in China

Clinical and molecular findings in a cohort of ANO5‐related myopathy

A Journey with LGMD: From Protein Abnormalities to Patient Impact

Contact Info

Product

Resources

About