Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene

Lehtokari, Vilma-Lotta; Gardberg, Maria; Pelin, Katarina; Wallgren‐Pettersson, Carina

doi:10.1016/j.nmd.2017.12.009

Cited by 7 publications

(11 citation statements)

References 14 publications

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“…This phenomenon is well recognized in RYR1-related myopathies, in which approximately 40% of patients present with core myopathy, 12 whereas others present with malignant hyperthermia or recurrent rhabdomyolysis without histopathologic abnormalities. 12,13 Moreover, CM can manifest in adulthood, as reported with CM caused by variants in RYR1 , 12 DNM2 , 14 ACTA1 , 15,16 BIN1 , 17 MYH7 , 18 and KBTBD13 . 19 Despite these reports, the prevalence of adult-onset CM remains unknown, and their characteristics have not been systematically studied.…”

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confidence: 91%

Congenital myopathies in the adult neuromuscular clinic

et al. 2019

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ObjectiveTo investigate the spectrum of undiagnosed congenital myopathies (CMs) in adults presenting to our neuromuscular clinic and to identify the pitfalls responsible for diagnostic delays.MethodsWe conducted a retrospective review of patients diagnosed with CM in adulthood in our neuromuscular clinic between 2008 and 2018. Patients with an established diagnosis of CM before age 18 years were excluded.ResultsWe identified 26 patients with adult-onset CM and 18 patients with pediatric-onset CM who were only diagnosed in adulthood. Among patients with adult onset, the median age at onset was 47 years, and the causative genes were RYR1 (11 families), MYH7 (3 families) and ACTA1 (2 families), and SELENON, MYH2, DNM2, and CACNA1S (1 family each). Of 33 patients who underwent muscle biopsy, only 18 demonstrated histologic abnormalities characteristic of CM. Before their diagnosis of CM, 23 patients had received other diagnoses, most commonly non-neurologic disorders. The main causes of diagnostic delays were mildness of the symptoms delaying neurologic evaluation and attribution of the symptoms to coexisting comorbidities, particularly among pediatric-onset patients.ConclusionsCMs in adulthood represent a diagnostic challenge, as they may lack the clinical and myopathologic features classically associated with CM. Our findings underscore the need for a revision of the terminology and current classification of these disorders.

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confidence: 91%

Congenital myopathies in the adult neuromuscular clinic

et al. 2019

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“…The name arises from the thread or rod-like structures (nemaline bodies) that are seen on muscle biopsy when stained with Gomori Trichrome. Typically an autosomal dominant disorder, NM can either present at birth or rarely acquired as an adult [2].…”

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confidence: 99%

“…While the genetic foundation of NM is still under investigation, NM is thought to be most commonly caused by a mutation in the α-actin 1 gene (ACTA1) [2]. Mutations in this specific gene can cause an array of myopathies, all resulting in motor and muscle-relating impairments [2]. Variants in the α-actin 1 gene account for about 23% of nemaline myopathy diagnoses [2].…”

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confidence: 99%

“…Mutations in this specific gene can cause an array of myopathies, all resulting in motor and muscle-relating impairments [2]. Variants in the α-actin 1 gene account for about 23% of nemaline myopathy diagnoses [2]. For example, a missense variant (p.Glu85Lys) in ACTA1, or a mutation at the codon p.Gly253Asp, has the ability to cause nemaline myopathy, resulting in symptoms such as respiratory difficulty and hypotonia [2,3].…”

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confidence: 99%

“…Variants in the α-actin 1 gene account for about 23% of nemaline myopathy diagnoses [2]. For example, a missense variant (p.Glu85Lys) in ACTA1, or a mutation at the codon p.Gly253Asp, has the ability to cause nemaline myopathy, resulting in symptoms such as respiratory difficulty and hypotonia [2,3]. Mutations of ACTA1 are typically described as resulting in "dominant distal myopathy with nemaline rods," affecting muscles of the lower arms and legs as well as the hands and feet.…”

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confidence: 99%

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2020

J Surg Curr Trend Innov

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A case report of the 5-year treatment path of a female patient with Nemaline Rod Myopathy treated by the Department of Oral and Maxillofacial Surgery and the Department of Craniofacial Orthodontics at the Case Western Reserve University in Cleveland, Ohio is presented. Myopathic patients present with disease-specific facies that requires extensive surgical intervention. Additionally, these patients are medically complex, requiring extensive pre and post-surgical planning to avoid adverse events. Our multi-disciplinary and multi-staged treatment plan required no extended post-surgical hospital stays or emergent interventions and she was to reach her stated goal of closing her lips and speaking.

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Pediatric Nemaline Myopathy: A systematic review using individual patient data

Christophers

Lopez

Gupta

et al. 2022

Preprint

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Context: Nemaline myopathy (NM) is a skeletal muscle disease that affects 1 in 50,000 live births. Objective: Develop a narrative synthesis of the findings of a systematic review of the latest case descriptions of patients with nemaline myopathy. Data Sources: A systematic search of MEDLINE, Embase, CINAHL, Web of Science, and Scopus was performed using Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines using the keywords pediatric, child, nemaline myopathy, nemaline rod, rod myopathy. Study Selection: Case studies focused on pediatric NM and published in English between January 1, 2010 and December 31, 2020 in order to represent the most recent findings. Data Extraction: Information was collected about the age of first signs, earliest presenting neuromuscular signs and symptoms, systems affected, progression, death, pathological description, and genetic changes. Results: Of a total of 385 records, 55 case reports or series were reviewed, covering 101 pediatric patients from 23 countries. We review varying presentations in children ranging in severity despite being caused by the same mutation, in addition to current and future clinical considerations relevant to the care of patients with nemaline myopathy. Limitations: The results are limited by findings shared in the literature, which varied in their detail and sometimes lacked histological or genetic results. Trends and correlations may be altered by information available. Conclusions: This review synthesizes genetic, histopathologic, and disease presentation findings from pediatric nemaline myopathy case reports. These data strengthen our understanding of the wide spectrum of disease seen in nemaline myopathy. Future studies are needed to identify the underlying molecular mechanism of pathology, to improve diagnostics, and to develop better methods to improve quality of life for these patients.

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Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene

Cited by 7 publications

References 14 publications

Congenital myopathies in the adult neuromuscular clinic

Congenital myopathies in the adult neuromuscular clinic

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Pediatric Nemaline Myopathy: A systematic review using individual patient data

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