DISTROFIA FACIOESCAPULOUMERAL PDF

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Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder in which the muscles of the face, shoulder blades and upper arms are among the. Facioscapulohumeral muscular dystrophy (FSHD) is associated with the progressive weakening of the muscles starting in the face, shoulders, and upper arms. Facioscapulohumeral dystrophy (FSHD) is one of the most common types of muscular dystrophy. It has distinct regional involvement and.

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Facioscapulohumeral Muscular Dystrophy (FSHD) – Muscular Dystrophy News

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. Onset occurs between 3 and 60 years of age. Disease progression is usually slow but some patients display periods of stability followed by periods of rapid deterioration. Early onset of FSHD is associated with more widespread muscle weakness.

The initial manifestation is facial weakness difficulties whistling, smiling and closing the eyes but the main complain is shoulder involvement difficulties rising the arms, scapular winging and sloping shoulders.

The disease progresses to include wrist extension weakness, involvement of the abdominal muscles, and weakness of the lower limbs principally affecting foot then knee extensor muscles. Significant clinical variability exists and atypical presentations have been reported. Sensory, cardiac and neurological signs may be present in rare cases. Two genetic subtypes of FSHD have been identified: In FSHD1, repeat contractions are associated with local hypomethylation and change in chromatin relaxation on chromosome 4 that increases the likelihood of toxic DUX4 4q In this situation, the residual number of D4Z4 units inversely correlates with severity.

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Differential diagnosis mainly includes limb-girdle muscular dystrophy but also neuromuscular diseases presenting with scapular winging as glycogen storage disease due to acid maltase deficiency, late-onset, endocrine myopathy, inclusion body myopathy with Paget disease of bone and frontotemporal dementia see these termsproximal neuropathies or neuronopathies.

Facioscapulohumeral muscular dystrophy

Mosaicism may explain the occurrence of severe forms in children born to parents showing no signs of the disease. Genetic counseling and prenatal distroifa are therefore challenging.

Treatment is symptomatic, aiming towards prevention of joint stiffness and pain by passive mobilization and administration of antalgics. In severe cases, ventilatory support may be required.

Surgical treatment involves fixation of the scapula and may lead to an improvement in the range of motion of the arms. Prognosis depends upon the extent of loss of functional capacity but distrofis expectancy is not reduced, unless in rare occurrence where respiratory functions are affected. Other search option s Alphabetical list.

Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition Facioscapulohumeral muscular dystrophy FSHD is characterized by progressive muscle weakness with focal facioezcapuloumeral of the facial, shoulder and limb muscles. Clinical description Onset occurs between 3 and 60 years of age.

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Differential diagnosis Differential diagnosis mainly includes limb-girdle muscular dystrophy but also neuromuscular diseases presenting with scapular winging as glycogen storage disease due to acid maltase deficiency, late-onset, endocrine myopathy, inclusion body myopathy with Paget disease of bone and frontotemporal dementia see these termsproximal neuropathies or neuronopathies.

Management and treatment Treatment is symptomatic, aiming towards prevention of joint stiffness and pain by passive facioesvapuloumeral and administration of antalgics.

Prognosis Prognosis depends upon the extent of loss of functional capacity but life expectancy is not reduced, unless in rare occurrence where respiratory functions are affected. Additional information Further information on this disease Classification s 2 Gene s 4 Disability Clinical signs and symptoms Publications in PubMed Other website s Health care resources for this disease Expert centres Diagnostic tests 44 Patient organisations 56 Orphan drug s 5.

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The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.