U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Facioscapulohumeral muscular dystrophy 2(FSHD2)

MedGen UID:
320405
Concept ID:
C1834671
Disease or Syndrome
Synonyms: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC; FSHD2; FSHD2, DIGENIC; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1B
 
Gene (location): SMCHD1 (18p11.32)
 
Monarch Initiative: MONDO:0008031
OMIM®: 158901

Disease characteristics

Excerpted from the GeneReview: Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened. [from GeneReviews]
Authors:
Matthew K Preston  |  Rabi Tawil  |  Leo H Wang   view full author information

Additional descriptions

From OMIM
Facioscapulohumeral muscular dystrophy-2 (FSHD2) is a form of muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities. The pattern of weakness is usually asymmetric (summary by Lemmers et al., 2012). For a discussion of genetic heterogeneity of FSHD, see FSHD1 (158900), which is associated with physical contraction of D4Z4 macrosatellite repeats (see 606009) in the subtelomeric region of chromosome 4q35. The pathogenesis of FSHD1 and FSHD2 converge at the level of D4Z4 chromatin relaxation and inappropriate expression of DUX4 in skeletal muscle (summary by Lemmers et al., 2012).  http://www.omim.org/entry/158901
From MedlinePlus Genetics
Researchers have described two types of facioscapulohumeral muscular dystrophy: type 1 (FSHD1) and type 2 (FSHD2). The two types have the same signs and symptoms and are distinguished by their genetic cause.

Additional signs and symptoms of facioscapulohumeral muscular dystrophy can include mild high-tone hearing loss and abnormalities involving the light-sensitive tissue at the back of the eye (the retina). These signs are often not noticeable and may be discovered only during medical testing. Rarely, facioscapulohumeral muscular dystrophy affects the heart (cardiac) muscle or muscles needed for breathing.

The muscle weakness associated with facioscapulohumeral muscular dystrophy worsens slowly over decades and may spread to other parts of the body. Weakness in muscles of the lower legs can lead to a condition called foot drop, which affects walking and increases the risk of falls. Muscular weakness in the hips and pelvis can make it difficult to climb stairs or walk long distances. Additionally, affected individuals may have an exaggerated curvature of the lower back (lordosis) due to weak abdominal muscles. About 20 percent of affected individuals eventually require the use of a wheelchair.

Weakness involving the facial muscles or shoulders is usually the first symptom of this condition. Facial muscle weakness often makes it difficult to drink from a straw, whistle, or turn up the corners of the mouth when smiling. Weakness in muscles around the eyes can prevent the eyes from closing fully while a person is asleep, which can lead to dry eyes and other eye problems. For reasons that are unclear, weakness may be more severe in one side of the face than the other. Weak shoulder muscles tend to make the shoulder blades (scapulae) protrude from the back, a common sign known as scapular winging. Weakness in muscles of the shoulders and upper arms can make it difficult to raise the arms over the head or throw a ball.

Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Milder cases may not become noticeable until later in life, whereas rare severe cases become apparent in infancy or early childhood.  https://medlineplus.gov/genetics/condition/facioscapulohumeral-muscular-dystrophy

Clinical features

From HPO
Scapular winging
MedGen UID:
66822
Concept ID:
C0240953
Anatomical Abnormality
Abnormal protrusion of the scapula away from the surface of the back.
Pelvic girdle muscle weakness
MedGen UID:
96534
Concept ID:
C0427064
Finding
Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.
Foot dorsiflexor weakness
MedGen UID:
356163
Concept ID:
C1866141
Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Beevor sign
MedGen UID:
533911
Concept ID:
C0231616
Sign or Symptom
Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus.
Facial palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Scapulohumeral muscular dystrophy
MedGen UID:
98373
Concept ID:
C0410192
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFacioscapulohumeral muscular dystrophy 2

Professional guidelines

PubMed

Mair D, Biskup S, Kress W, Abicht A, Brück W, Zechel S, Knop KC, Koenig FB, Tey S, Nikolin S, Eggermann K, Kurth I, Ferbert A, Weis J
Brain Pathol 2020 Sep;30(5):877-896. Epub 2020 Jun 15 doi: 10.1111/bpa.12864. PMID: 32419263Free PMC Article

Recent clinical studies

Etiology

de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R
Neurology 2010 Oct 26;75(17):1548-54. doi: 10.1212/WNL.0b013e3181f96175. PMID: 20975055Free PMC Article

Diagnosis

Lee JH, Park HJ, Seong MW, Park SS, Choi YC
Yonsei Med J 2021 Jan;62(1):95-98. doi: 10.3349/ymj.2021.62.1.95. PMID: 33381940Free PMC Article
Mair D, Biskup S, Kress W, Abicht A, Brück W, Zechel S, Knop KC, Koenig FB, Tey S, Nikolin S, Eggermann K, Kurth I, Ferbert A, Weis J
Brain Pathol 2020 Sep;30(5):877-896. Epub 2020 Jun 15 doi: 10.1111/bpa.12864. PMID: 32419263Free PMC Article
de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R
Neurology 2010 Oct 26;75(17):1548-54. doi: 10.1212/WNL.0b013e3181f96175. PMID: 20975055Free PMC Article

Therapy

Giacomucci G, Monforte M, Diaz-Manera J, Mul K, Fernandez Torrón R, Maggi L, Marini Bettolo C, Dahlqvist JR, Haberlova J, Camaño P, Gros M, Tartaglione T, Cristiano L, Gerevini S, Calandra P, Deidda G, Giardina E, Sacconi S, Straub V, Vissing J, Van Engelen B, Ricci E, Tasca G
Eur J Neurol 2020 Dec;27(12):2604-2615. Epub 2020 Aug 14 doi: 10.1111/ene.14446. PMID: 32697863

Clinical prediction guides

Lee JH, Park HJ, Seong MW, Park SS, Choi YC
Yonsei Med J 2021 Jan;62(1):95-98. doi: 10.3349/ymj.2021.62.1.95. PMID: 33381940Free PMC Article
de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R
Neurology 2010 Oct 26;75(17):1548-54. doi: 10.1212/WNL.0b013e3181f96175. PMID: 20975055Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...