DISTROFIA FACIOESCAPULOUMERAL PDF

Aim: To explore the clinical course of patients presenting with facioscapulohumeral dystrophy type 1 FSHD1 in childhood, with a view to identifying areas where they differed from older patients and where extra support or monitoring might be required. Method: A retrospective case-notes review of children with FSHD1 seen at a tertiary paediatric neuromuscular centre between and was performed. Data collected included age at and nature of presentation, path to diagnosis, genetic testing results, motor function, and occurrence of extramuscular features and complications. Results: Eighteen children 11 females, seven males; mean [SD] age at latest review 13y 10mo [3y 9mo], range y from 16 families were identified.

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Aim: To explore the clinical course of patients presenting with facioscapulohumeral dystrophy type 1 FSHD1 in childhood, with a view to identifying areas where they differed from older patients and where extra support or monitoring might be required. Method: A retrospective case-notes review of children with FSHD1 seen at a tertiary paediatric neuromuscular centre between and was performed.

Data collected included age at and nature of presentation, path to diagnosis, genetic testing results, motor function, and occurrence of extramuscular features and complications. Results: Eighteen children 11 females, seven males; mean [SD] age at latest review 13y 10mo [3y 9mo], range y from 16 families were identified.

Children with onset before 5 years were more likely to present with non-muscular symptoms and to develop extramuscular pathology, including developmental and psychiatric issues, hearing or visual impairments, and problems involving respiratory function and nutrition. No cases of epilepsy or cardiac arrhythmia were identified but two children died. Interpretation: The complexity and severity of FSHD1 presenting in early childhood underlines the importance of a multidisciplinary approach to the disorder.

What this paper adds: Young children often present with non-muscular pathology in facioscapulohumeral dystrophy type 1 FSHD1 , especially hearing loss. Age at onset in paediatric FSHD1 appears bimodal: under 5 years or in adolescence.

Prolonged delays to diagnosis are common. Developmental and psychiatric comorbidities are common. This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features! Clipboard, Search History, and several other advanced features are temporarily unavailable.

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Bernardino Gomes T. Dev Med Child Neurol. Epub Jan PMID: No abstract available. Similar articles [Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 FSHD1 in ]. Salort-Campana E, et al. Rev Neurol Paris.

Epub Sep 4. PMID: French. Dadali EL, et al. PMID: Russian. Clinical features of facioscapulohumeral muscular dystrophy 2. Facioscapulohumeral muscular dystrophy. Statland J, Tawil R. Statland J, et al. Neurol Clin. Epub May Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy.

Mul K, et al. Curr Opin Neurol. PMID: Review. Show more similar articles See all similar articles. Bosnakovski D, et al. J Clin Invest. PMID: Publication types Research Support, Non-U. Gov't Actions. MeSH terms Adolescent Actions.

Child Actions. Disease Progression Actions. Female Actions. Humans Actions. Male Actions. Phenotype Actions. Retrospective Studies Actions. Symptom Assessment Actions.

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Clinical Features of Facioscapulohumeral Muscular Dystrophy 1 in Childhood

Os exames eram realizados por oculista ou oftalmologista. Os pacientes com uma grande variedade de miopatias podem ser afetados e eram alertados sobre esse risco antes de serem submetidos a cirurgia Os meninos com DMD e os adolescentes com DMB realizavam ecocardiogramas anuais para verificar sinais precoces de cardiomiopatia. Strehle EM.

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Umbertina C. Reed 1. Objective: to discuss the most important aspects for performing a differential diagnosis among the main neuromuscular disorders in children, that include the diseases affecting the motor unity, i. In addition, it is based on Medline and on the review of the most recent numbers of Neuromuscular Disorders, the official journal of the World Muscle Society. Summary of the findings: most of neuromuscular disorders are genetic conditions in children and the most common of them are X-linked Progressive Muscular Dystrophy of Duchenne, Spinal Muscular Atrophy, Congenital Muscular Dystrophy, Myotonic Dystrophy and Congenital Myopathies.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Facioscapulohumeral muscular dystrophy FSHD is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.

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