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.

Author: Vudotilar Vudocage
Country: Turkmenistan
Language: English (Spanish)
Genre: Environment
Published (Last): 21 April 2008
Pages: 424
PDF File Size: 3.51 Mb
ePub File Size: 16.77 Mb
ISBN: 129-7-86420-743-4
Downloads: 8598
Price: Free* [*Free Regsitration Required]
Uploader: Duzshura

Genetic counseling and prenatal diagnosis are therefore challenging. In some cases, symptoms never develop.

However, in all instances, D4Z4 from sperm was hypomethylated relative to D4Z4 from somatic tissues. Although some controversy remains, FSHD is likely caused by inappropriate expression of the double homeobox-containing gene DUX4 in muscle cells. Evaluation of parents may determine that one is affected but has escaped previous diagnosis because of a milder phenotypic presentation. Molecular Genetics and Metabolism.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination.

However, the CpG methylation at the D4Z4 repeat array is also determined by the size of the D4Z4 arrays on chromosomes 4q and 10q. II Clinical manifestations and inheritance of facioscapulohumeral dystrophy in a large family”.

Facioscapulohumeral muscular dystrophy

Surgery to fix a winged scapula. Disease progression is usually slow but some patients display periods of stability followed by periods of rapid deterioration. It is estimated that approximatelypeople worldwide live with FSHD. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Epub Oct Symptoms are most often mild and very slowly become facioedcapulohumeral. Building on the unified theory of FSHD, researchers in published the first proposed pathophysiology definition of the disease and four viable therapeutic disfrofia for possible intervention points.

Individuals with FSHD are unable to purse their lips, turn up the corners musxular their mouth when smiling, or bury their eyelashes when attempting to close their eyelids tightly. Scapuloperoneal muscular dystrophy syndromes, including myotonic dystrophy type 1 and myotonic dystrophy faciodscapulohumeral 2 also known as PROMMwhich have mild facial weakness and nonspecific histopathologic changes that cannot be differentiated from FSHD. Molecular genetic testing allows definitive diagnosis of these two conditions.


Additional information Further information on this disease Classification s 2 Facioescpaulohumeral s 4 Disability Clinical signs and symptoms Publications in PubMed Other website s In adults, a dilated retinal exam should be performed at the time of diagnosis; if vascular disease is absent, follow-up exams are only necessary if visual symptoms develop.

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 (FSHD) – Muscular Dystrophy News

No phenotypes other than those discussed in this GeneReview are associated with mutation of SMCHD1 or with the pathogenic contraction of the D4Z4 locus in the subtelomeric region of chromosome 4q. Shoulder muscle weakness causes deformities such as pronounced shoulder blades scapular winging and sloping shoulders.

In support of this possibility, the authors report a phenotypic dosage effect in both of the compound heterozygotes in comparison to other family members. Archived from the original on Subclinical cardiac involvement in patients with facioscapulohumeral muscular dystrophy. The normal D4Z4 allele has between 11 and units of the 3. Prenatal testing for pregnancies at increased risk is possible if the D4Z4 pathogenic contraction has been identified in the family.

Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers. A consensus on the following topics and the recommendations from that conference [ Tawil et al ] are outlined below: The affected parent frequently had mild disease and was mosaic for a pathogenic contraction of the D4Z4 locus.

Standards of care and management of facioscapulohumeral muscular dystrophy were agreed upon at the st ENMC International Workshop. Testing of at-risk individuals.


Thus, affected male offspring of affected mothers are likely to be more severely affected as a function of gender difference rather than anticipation. Am J Med Genet. Weakness of the lower legs is possible as the disorder gets worse. It is the 3rd most common form of hereditary myopathy. Physical therapy and rehabilitation Consultation with a physical therapist is indicated.

Individuals with severe infantile FSHD have muscle weakness at facioescapu,ohumeral. Arch Phys Med Rehabil. Facioscapulohumeral muscular dystrophy can be a cause of isolated childhood cognitive dysfunction.

Facioscapulohumeral muscular dystrophy 1 Facioscapulohumeral muscular dystrophy 2. Sequence analysis detects variants that are benign, likely benign, of uncertain significancelikely pathogenic, or pathogenic.

FSHD with somatic mosaicism of D4Z4 array lengths is more penetrant in males than in females [ van der Maarel et al ]. Scapulohumeral dystrophy with facial sparing. D ICD – The person has difficulty raising facioescapjlohumeral arms because of shoulder and arm muscle weakness. Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: Retrieved 29 August A repeat sequence almost identical to D4Z4 has been identified on chromosome 10q26 but contractions of this repeat are not associated with FSHD.

Clinical Characteristics Clinical Description Facioscapulohumeral muscular dystrophy FSHD is characterized by progressive muscle weakness involving the face, scapular stabilizers, upper arm, lower leg peroneal musclesand hip girdle [ Tawil et al ].

To prevent a false positive diagnosis, the clinician should know whether a laboratory test can distinguish between contracted D4Z4 arrays that occur on either the permissive 4A haplotype or the non-permissive 4A and 4B haplotypes see Molecular Genetic Testingtelomeric to the D4Z4 region. A Southern facioescapulohumerl -based method has been developed that measures the total D4Z4 methylation at chromosomes 4q and 10q by using methylation-sensitive restriction enzyme Fse I in the promoter region of DUX4 [ Lemmers et al b ].

Sensation is preserved; reflexes are often diminished.