DISTROFIA FASCIO ESCAPULO UMERAL 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. 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.

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Background: Facioscapulohumeral muscular dystrophy is a progressive muscle disease which has no agreed treatment. Early suggestions that corticosteroids might be helpful were not supported by a subsequent open label study. The beta 2 adrenergic agonist albuterol, also known as salbutamol, is known to have anabolic effects which might be beneficial for facioscapulohumeral muscular dystrophy. Creatine has been used as a muscle performance enhancer by athletes and it might be helpful in muscular dystrophies including facioscapulohumeral muscular dystrophy.

Objectives: The objective of the review was to determine whether there is any drug treatment which alters the progression of facioscapulohumeral muscular dystrophy. Abstracts from the major neurological meetings and trial bibliographies were also searched for further references to trials. Experts were contacted for information regarding unpublished trials or trials in progress. Selection criteria: We included all randomised or quasi-randomised trials of any drug treatment for facioscapulohumeral muscular dystrophy, in adults with a recognised diagnosis of facioscapulohumeral muscular dystrophy.

Trials had to include an assessment of muscle strength at one year. Data collection and analysis: All identified trials were independently assessed by both reviewers to ensure that they fulfilled the selection criteria and were then rated for their quality.

Trial data were extracted and entered by one reviewer and checked by the other. If appropriate data existed a weighted treatment effect was to be calculated across trials using the Cochrane statistical package, Review Manager.

Main results: Two published high quality randomised controlled trials fulfilled the selection criteria. One compared creatine supplementation with placebo and the other compared high and low-dose albuterol with placebo.

A further unpublished randomised controlled trial of albuterol in facioscapulohumeral muscular dystrophy was identified. The creatine trial showed a non-significant difference in favour of creatine. The albuterol trial showed no significant difference in muscle strength at one year but some secondary measures such as lean body mass and handgrip strength did improve.

Reviewers' conclusions: There is no evidence from randomised controlled trials to support any drug treatment for facioscapulohumeral muscular dystrophy but only two randomised controlled trials have been published. RT was an investigator in the Kissel trial. 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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Abstract Background: Facioscapulohumeral muscular dystrophy is a progressive muscle disease which has no agreed treatment. Conflict of interest statement RT was an investigator in the Kissel trial.

Figures 1. Analysis 5 Comparison 1 Albuterol versus placebo,…. Analysis 13 Comparison 1 Albuterol versus placebo, Outcome 1 Global manual muscle strength at 52…. Comparison 1 Albuterol versus placebo, Outcome 1 Global manual muscle strength at 52 weeks.

Analysis 13 Comparison 1 Albuterol versus placebo, Outcome 4 Grip strength at 52 weeks. Comparison 1 Albuterol versus placebo, Outcome 4 Grip strength at 52 weeks. Analysis 5 Comparison 2 Creatine v Placebo,…. Comparison 2 Creatine v Placebo, Outcome 1 Average manual muscle strength at 8 weeks.

Comparison 2 Creatine v Placebo, Outcome 2 Neuromuscular symptoms score at 8 weeks. See this image and copyright information in PMC. Update of Cochrane Database Syst Rev. Similar articles Creatine for treating muscle disorders. Kley RA, et al. Cochrane Database Syst Rev.

PMID: Updated. Strength training and aerobic exercise training for muscle disease. Voet NB, et al. Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Kissel JT, et al. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Manzur AY, et al. Show more similar articles See all similar articles. Cited by 7 articles Outcomes of scapulothoracic fusion in facioscapulohumeral muscular dystrophy: A systematic review. Kord D, et al. Shoulder Elbow.

Epub Aug PMID: Review. Facioscapulohumeral distrophy and physiotherapy: a literary review. Corrado B, Ciardi G. Corrado B, et al. J Phys Ther Sci. Epub Jul Facioscapulohumeral muscular dystrophy. Statland J, Tawil R. Statland J, et al. Neurol Clin. Epub May Effective classification and gene expression profiling for the Facioscapulohumeral Muscular Dystrophy. PLoS One. Creatine for treating muscle disorders.

Show more "Cited by" articles See all "Cited by" articles. Publication types Review Actions. Systematic Review Actions. Humans Actions. Randomized Controlled Trials as Topic Actions. Substances Adrenergic beta-Agonists Actions. Creatine Actions. Albuterol Actions. Copy Download.

ARSENIK ZEHIRLENMESI PDF

Facioscapulohumeral muscular dystrophy

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. It is the 3rd most common form of hereditary myopathy.

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Clinical Features of Facioscapulohumeral Muscular Dystrophy 1 in Childhood

Background: Facioscapulohumeral muscular dystrophy is a progressive muscle disease which has no agreed treatment. Early suggestions that corticosteroids might be helpful were not supported by a subsequent open label study. The beta 2 adrenergic agonist albuterol, also known as salbutamol, is known to have anabolic effects which might be beneficial for facioscapulohumeral muscular dystrophy. Creatine has been used as a muscle performance enhancer by athletes and it might be helpful in muscular dystrophies including facioscapulohumeral muscular dystrophy. Objectives: The objective of the review was to determine whether there is any drug treatment which alters the progression of facioscapulohumeral muscular dystrophy. Abstracts from the major neurological meetings and trial bibliographies were also searched for further references to trials. Experts were contacted for information regarding unpublished trials or trials in progress.

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Drug Treatment for Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy FSHD is a type of muscular dystrophy MD [3] that initially weakens the skeletal muscles of the face Latin: facio , shoulder girdle scapulo and upper arm humerus. Weakness usually develops in other areas of the body as well, such as the abdomen and front lower leg. Often weakness develops on one side of the body before the other. Non-muscular manifestations of FSHD include hearing loss and retinal blood vessel abnormalities. DUX4 normally is turned on, or expressed, in early human development and later repressed in mature tissues.

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