Facioscapulohumeral muscular dystrophy : Clinical picture, atypical forms, diagnostics, genetics.
Summary of "Facioscapulohumeral muscular dystrophy : Clinical picture, atypical forms, diagnostics, genetics."
The classic phenotype of the facioscapulohumeral muscular dystrophy (FSHD) includes an initially restricted pattern of asymmetric weakness of facial and shoulder girdle muscles. Disease progression is usually slow and typically accompanied by foot extensor muscle weakness and pelvic girdle weakness. Atypical patterns of FSHD that include isolated camptocormia and facial muscle sparing exceed current diagnostic criteria.No causal genetic lesion in FSHD has been identified yet. In the vast majority of cases, FSHD results from a heterozygous partial deletion of a critical number of repetitive elements (D4Z4) on chromosome 4q35 (4qA allele). Molecular diagnostic testing is appropriate to confirm the diagnosis of FSHD without need for muscle biopsy. Penetrance of this dominantly inherited disorder is high, exhibiting a great phenotypic variability in clinical pattern and disease progression even among affected members of the same family.
Klinik für Neurologie, Martin-Luther-Universität Halle-Wittenberg, Ernst-Grube-Str. 40, 06120, Halle/Saale, Deutschland, Berit.Jordan@medizin.uni-halle.de.
This article was published in the following journal.
Name: Der Nervenarzt
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21567298
- DOI: http://dx.doi.org/10.1007/s00115-010-2968-x
Medical and Biotech [MESH] Definitions
A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.
Muscular Dystrophy, Emery-dreifuss
A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.
Muscular Dystrophy, Oculopharyngeal
An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.
Muscular Dystrophy, Duchenne
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Muscular Dystrophy, Facioscapulohumeral
An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)
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