Facioscapulohumeral muscular dystrophy

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Facioscapulohumeral muscular dystrophy (FSHD) is a form of muscular dystrophy characterised by extremely variable degrees of facial, scapular and lower limb muscle involvement.

Epidemiology

It is considered one of the more common hereditary muscular disorders with prevalence of around 1 in 8.000.

Clinical presentation

Initially there may be a restricted pattern of weakness with early involvement of the facial and scapular stabiliser muscles and with a descending course resulting in later involvement of either the distal anterior leg or hip-girdle muscles.

Pathology

Genetics

It carries an autosomal dominant inheritance.

Two types been describied

type I (95%): associated with a decreased number of D4Z4 repeats on chromosome 4q35 ³.
type II (5%): no associated deletion ⁷

Radiographic features

MRI

MRI is consider rather sensitive and may show a specific pattern of muscle fatty replacement and atrophy, particularly in upper girdle muscles.

Most frequently affected muscles are trapezius, teres major and serratus anterior. Asymmetric muscle involvement may significantly higher in FSHD as compared to non-FSHD¹.

Whole body MRI may be useful to assess pattern of muscle involvement.

Treatment and prognosis

Its severity and disease course can vary considerably.

-<p><strong>Facioscapulohumeral muscular dystrophy (FSHD)</strong> is a form of <a title="muscular dystrophy" href="/articles/muscular-dystrophy">muscular dystrophy</a> characterised by extremely variable degrees of facial, scapular and lower limb muscle involvement.</p><h4>Clinical presentation</h4><p>Initially there may be a restricted pattern of weakness with early involvement of the facial and scapular stabiliser muscles and with a descending course resulting in later involvement of either the distal anterior leg or hip-girdle muscles.</p><h4>Pathology</h4><h5>Genetics</h5><p>It carries an autosomal dominant inheritance.</p><h4>Radiographic features</h4><h5>MRI</h5><p>MRI is consider rather sensitive and may show a specific pattern of muscle fatty replacement and atrophy, particularly in upper girdle muscles.</p><p>Most frequently affected muscles are trapezius, teres major and serratus anterior. Asymmetric muscle involvement may significantly higher in FSHD as compared to non-FSHD<sup> 1</sup>.</p>
+<p><strong>Facioscapulohumeral muscular dystrophy (FSHD)</strong> is a form of <a href="/articles/muscular-dystrophy">muscular dystrophy</a> characterised by extremely variable degrees of facial, scapular and lower limb muscle involvement.</p><h4>Epidemiology</h4><p>It is considered one of the more common hereditary muscular disorders with prevalence of around 1 in 8.000.</p><h4>Clinical presentation</h4><p>Initially there may be a restricted pattern of weakness with early involvement of the facial and scapular stabiliser muscles and with a descending course resulting in later involvement of either the distal anterior leg or hip-girdle muscles.</p><h4>Pathology</h4><h5>Genetics</h5><p>It carries an autosomal dominant inheritance.</p><p>Two types been describied </p><ul>
+<li>
+<strong>type I </strong>(95%): associated with a decreased number of D4Z4 repeats on chromosome 4q35 <sup>3</sup>.</li>
+<li>
+<strong>type II</strong> (5%): no associated deletion <sup>7</sup>
+</li>
+</ul><h4>Radiographic features</h4><h5>MRI</h5><p>MRI is consider rather sensitive and may show a specific pattern of muscle fatty replacement and atrophy, particularly in upper girdle muscles.</p><p>Most frequently affected muscles are trapezius, teres major and serratus anterior. Asymmetric muscle involvement may significantly higher in FSHD as compared to non-FSHD<sup> 1</sup>.</p><p>Whole body MRI may be useful to assess pattern of muscle involvement.</p><h4>Treatment and prognosis</h4><p>Its severity and disease course can vary considerably. </p>

References changed:

1. Gerevini S, Scarlato M, Maggi L, Cava M, Caliendo G, Pasanisi B, Falini A, Previtali SC, Morandi L. Muscle MRI findings in facioscapulohumeral muscular dystrophy. (2016) European radiology. 26 (3): 693-705. <a href="https://doi.org/10.1007/s00330-015-3890-1">doi:10.1007/s00330-015-3890-1</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/26115655">Pubmed</a> <span class="ref_v4"></span>
2. Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. (2006) Muscle & nerve. 34 (1): 1-15. <a href="https://doi.org/10.1002/mus.20522">doi:10.1002/mus.20522</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/16508966">Pubmed</a> <span class="ref_v4"></span>
3. Butz M, Koch MC, Müller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H. Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers. (2003) Journal of neurology. 250 (8): 932-7. <a href="https://doi.org/10.1007/s00415-003-1116-y">doi:10.1007/s00415-003-1116-y</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/12928911">Pubmed</a> <span class="ref_v4"></span>
4. Fisher J, Upadhyaya M. Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD). (1997) Neuromuscular disorders : NMD. 7 (1): 55-62. <a href="https://www.ncbi.nlm.nih.gov/pubmed/9132141">Pubmed</a> <span class="ref_v4"></span>
5. Leung DG, Carrino JA, Wagner KR, Jacobs MA. Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy. (2015) Muscle & nerve. 52 (4): 512-20. <a href="https://doi.org/10.1002/mus.24569">doi:10.1002/mus.24569</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/25641525">Pubmed</a> <span class="ref_v4"></span>
6. Mul K, Lassche S, Voermans NC, Padberg GW, Horlings CG, van Engelen BG. What's in a name? The clinical features of facioscapulohumeral muscular dystrophy. (2016) Practical neurology. 16 (3): 201-7. <a href="https://doi.org/10.1136/practneurol-2015-001353">doi:10.1136/practneurol-2015-001353</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/26862222">Pubmed</a> <span class="ref_v4"></span>
7. Statland J, Tawil R. Facioscapulohumeral muscular dystrophy. (2014) Neurologic clinics. 32 (3): 721-8, ix. <a href="https://doi.org/10.1016/j.ncl.2014.04.003">doi:10.1016/j.ncl.2014.04.003</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/25037087">Pubmed</a> <span class="ref_v4"></span>

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