ArticleJournal of neurology2011
Camptocormia phenotype of FSHD: a clinical and MRI study on six patients.
Article in Journal of neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review.Journal of neurology · 2017Pooled it
- FAP adipogenesis drives early spinal muscle loss in dysferlinopathy and reveals a therapeutic target.EMBO molecular medicine · 2026Article
- Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features.European journal of neurology · 2025Article
- Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.Orphanet journal of rare diseases · 2025Article
- French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).Journal of neurology · 2024Review
- A Comprehensive Update on Late-Onset Pompe Disease.Biomolecules · 2023Review
- Review
- Atypical motor neuron disease with bent spine clinical onset and long survival carrying C9orf72 expansion.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.JAMA network open · 2020Article
- Sleep-related breathing disorders in facioscapulohumeral dystrophy.Sleep & breathing = Schlaf & Atmung · 2019Article
- Management strategies in facioscapulohumeral muscular dystrophy.Intractable & rare diseases research · 2019Review
- Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018Review
- Camptocormia: Etiology, diagnosis, and treatment response.Neurology. Clinical practice · 2018Review
- Facioscapulohumeral Muscular Dystrophy.Continuum (Minneapolis, Minn.) · 2016Review
- Clinical Muscle Testing Compared with Whole-Body Magnetic Resonance Imaging in Facio-scapulo-humeral Muscular Dystrophy.Clinical neuroradiology · 2016Article
- Pathophysiological Concepts and Treatment of Camptocormia.Journal of Parkinson's disease · 2016Review
- Camptocormia in Parkinson's disease: definition, epidemiology, pathogenesis and treatment modalities.Journal of neurology, neurosurgery, and psychiatry · 2016Review
- Facioscapulohumeral muscular dystrophy.Neurologic clinics · 2014Review
- Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.Current molecular medicine · 2014Article
- Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.BMC medical genetics · 2013Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recently it has been postulated that there is an atypical facioscapulohumeral muscular dystrophy (FSHD) phenotype with isolated axial myopathy. Involvement of paraspinal and limb muscles was evaluated in six patients with molecularly proven FSHD and a predominant bent spine phenotype. Consistent with the camptocormia phenotype, the most severely affected muscles in all six patients were the thoracic and lumbar spinal tract together with hamstrings. MRI disclosed severe axial muscle degeneration but mostly subclinical involvement of limb muscles. The involvement of hip extensor muscles in FSHD might considerably contribute to the clinical phenotype of camptocormia due to axial muscle involvement.
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Registered trials
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.