ReviewJournal of neurology2015
Diagnosis of muscle diseases presenting with early respiratory failure.
Review in Journal of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 57 citations in OpenAlex.
- Myopathies in clinical care: a focus on treatable causes.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Evaluation of respiratory status in patients with myopathy.Journal of education and health promotion · 2026Article
- Multisystem Symptoms in Myotonic Dystrophy Type 1: A Management and Therapeutic Perspective.International journal of molecular sciences · 2025Review
- Unmasking MEGF10 Myopathy: A Rare Cause of Sudden Respiratory Failure in a Young Adult.Case reports in neurological medicine · 2025Article
- Improved diagnostic performance of high-sensitivity cardiac troponins in muscle dystrophies using comprehensive definition criteria for cardiac involvement: A longitudinal study on 35 patients.European journal of neurology · 2024Article
- Interpretation of elevated baseline concentrations and serial changes of high-sensitivity cardiac troponin T in confirmed muscular dystrophies.ESC heart failure · 2024Article
- Genotype‒phenotype correlation in recessive DNAJB4 myopathy.Acta neuropathologica communications · 2024Article
- Update on recent advances in amyotrophic lateral sclerosis.Journal of neurology · 2024Review
- Dynamic equilibrium of skeletal muscle macrophage ontogeny in the diaphragm during homeostasis, injury, and recovery.Scientific reports · 2024Article
- Respiratory failure as first presentation of myasthenia gravis: a case report.The Journal of international medical research · 2024Article
- Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.European journal of human genetics : EJHG · 2024Article
- Targeted next-generation sequencing determined a novelClinical case reports · 2023Article
- A late presentation ofJournal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2022Article
- Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Marked Respiratory Failure in an Ambulant Patient with Immune-mediated Necrotizing Myopathy and Anti-Kv1.4 and Anti-titin Antibodies.Internal medicine (Tokyo, Japan) · 2021Article
- Management of respiratory complications and rehabilitation in individuals with muscular dystrophies: 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Milan, January 25-26, 2019).Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2021Article
- Making sense of missense variants in TTN-related congenital myopathies.Acta neuropathologica · 2021Article
- Predictors of respiratory decline in myotonic dystrophy type 1 (DM1): a longitudinal cohort study.Acta neurologica Belgica · 2021Article
- Factors Influencing the Severity and Progression of Respiratory Muscle Dysfunction in Myotonic Dystrophy Type 1.Frontiers in neurology · 2021Article
- Titinopathy, an atypical respiratory failure.BMJ case reports · 2020Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Here we describe a clinical approach and differential diagnosis for chronic muscle diseases which include early respiratory failure as a prominent feature in their presentation (i.e. respiratory failure whilst still ambulant). These patients typically present to neurology or respiratory medicine out-patient clinics and a distinct differential diagnosis of neuromuscular aetiologies should be considered. Amyotrophic lateral sclerosis and myasthenia gravis are the important non-muscle diseases to consider, but once these have been excluded there remains a challenging differential diagnosis of muscle conditions, which will be the focus of this review. The key points in the diagnosis of these disorders are being aware of relevant symptoms, which are initially caused by nocturnal hypoventilation or diaphragmatic weakness; and identifying other features which direct further investigation. Important muscle diseases to identify, because their diagnosis has disease-specific management implications, include adult-onset Pompe disease, inflammatory myopathy, and sporadic adult-onset nemaline myopathy. Cases which are due to metabolic myopathy or muscular dystrophy are important to diagnose because of their implications for genetic counselling. Myopathy from sarcoidosis and colchicine each has a single reported case with this presentation, but should be considered because they are treatable. Disorders which have recently had their genetic aetiologies identified include hereditary myopathy with early respiratory failure (due to TTN mutations), the FHL1-related syndromes, and myofibrillar myopathy due to BAG3 mutation. Recently described syndromes include oculopharyngodistal muscular dystrophy that awaits genetic characterisation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.