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Facioscapulohumeral muscular dystrophy 1(FSHMD1A)

MedGen UID:
1727901
Concept ID:
C5399970
Disease or Syndrome
Synonyms: FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES; Facioscapulohumeral muscular dystrophy 1a; FSHMD1A
 
Gene (location): FRG1 (4q35.2)
 
Monarch Initiative: MONDO:0008030
OMIM®: 158900

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

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.
Shoulder girdle muscle weakness
MedGen UID:
96533
Concept ID:
C0427063
Finding
The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.
Shoulder girdle muscle atrophy
MedGen UID:
339837
Concept ID:
C1847766
Finding
Amyotrophy affecting the muscles of the shoulder girdle.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Sensorineural hearing impairment
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
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
Skeletal muscle atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Calf muscle hypertrophy
MedGen UID:
335868
Concept ID:
C1843057
Finding
Muscle hypertrophy affecting the calf muscles.
Abdominal wall muscle weakness
MedGen UID:
867169
Concept ID:
C4021527
Finding
Decreased strength of the abdominal musculature.
Restrictive ventilatory defect
MedGen UID:
478856
Concept ID:
C3277226
Finding
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Tongue atrophy
MedGen UID:
66828
Concept ID:
C0241423
Finding
Wasting of the tongue.
Exudative retinal detachment
MedGen UID:
57823
Concept ID:
C0154822
Disease or Syndrome
A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.
Retinal telangiectasia
MedGen UID:
57598
Concept ID:
C0154835
Disease or Syndrome
Dilatation of small blood vessels of the retina.
External ophthalmoplegia
MedGen UID:
57662
Concept ID:
C0162292
Disease or Syndrome
Paralysis of the external ocular muscles.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFacioscapulohumeral muscular dystrophy 1

Professional guidelines

PubMed

Groh WJ, Bhakta D, Tomaselli GF, Aleong RG, Teixeira RA, Amato A, Asirvatham SJ, Cha YM, Corrado D, Duboc D, Goldberger ZD, Horie M, Hornyak JE, Jefferies JL, Kääb S, Kalman JM, Kertesz NJ, Lakdawala NK, Lambiase PD, Lubitz SA, McMillan HJ, McNally EM, Milone M, Namboodiri N, Nazarian S, Patton KK, Russo V, Sacher F, Santangeli P, Shen WK, Sobral Filho DC, Stambler BS, Stöllberger C, Wahbi K, Wehrens XHT, Weiner MM, Wheeler MT, Zeppenfeld K
Heart Rhythm 2022 Oct;19(10):e61-e120. Epub 2022 Apr 29 doi: 10.1016/j.hrthm.2022.04.022. PMID: 35500790
Hangül C, Karaüzüm SB, Akkol EK, Demir-Dora D, Çetin Z, Saygılı Eİ, Evcili G, Sobarzo-Sánchez E
Curr Neuropharmacol 2021;19(12):2276-2295. doi: 10.2174/1570159X19666210726151924. PMID: 34315378Free PMC Article
Mul K, Voermans NC, Lemmers RJLF, Jonker MA, van der Vliet PJ, Padberg GW, van Engelen BGM, van der Maarel SM, Horlings CGC
Clin Genet 2018 Dec;94(6):521-527. Epub 2018 Oct 8 doi: 10.1111/cge.13446. PMID: 30211448

Recent clinical studies

Etiology

Blaszczyk E, Lim C, Kellman P, Schmacht L, Gröschel J, Spuler S, Schulz-Menger J
J Cardiovasc Magn Reson 2021 Nov 8;23(1):130. doi: 10.1186/s12968-021-00812-6. PMID: 34743704Free PMC Article
Banerji CRS, Cammish P, Evangelista T, Zammit PS, Straub V, Marini-Bettolo C
Neuromuscul Disord 2020 Apr;30(4):315-328. Epub 2020 Mar 12 doi: 10.1016/j.nmd.2020.03.001. PMID: 32327287
Steel D, Main M, Manzur A, Muntoni F, Munot P
Dev Med Child Neurol 2019 Aug;61(8):964-971. Epub 2019 Jan 20 doi: 10.1111/dmcn.14142. PMID: 30663041
Wohlgemuth M, Horlings CGC, van der Kooi EL, Gilhuis HJ, Hendriks JCM, van der Maarel SM, van Engelen BGM, Heijdra YF, Padberg GW
Neuromuscul Disord 2017 Jun;27(6):526-530. Epub 2017 Mar 22 doi: 10.1016/j.nmd.2017.03.008. PMID: 28416348
Andersen G, Dahlqvist JR, Vissing CR, Heje K, Thomsen C, Vissing J
J Neurol 2017 Mar;264(3):438-447. Epub 2016 Dec 20 doi: 10.1007/s00415-016-8361-3. PMID: 28000006

Diagnosis

Widholm P, Ahlgren A, Karlsson M, Romu T, Tawil R, Wagner KR, Statland JM, Wang LH, Shieh PB, van Engelen BGM, Cadavid D, Ronco L, Odueyungbo AO, Jiang JG, Mellion ML, Dahlqvist Leinhard O
Muscle Nerve 2022 Aug;66(2):183-192. Epub 2022 Jun 11 doi: 10.1002/mus.27638. PMID: 35585766
Blaszczyk E, Lim C, Kellman P, Schmacht L, Gröschel J, Spuler S, Schulz-Menger J
J Cardiovasc Magn Reson 2021 Nov 8;23(1):130. doi: 10.1186/s12968-021-00812-6. PMID: 34743704Free PMC Article
Steel D, Main M, Manzur A, Muntoni F, Munot P
Dev Med Child Neurol 2019 Aug;61(8):964-971. Epub 2019 Jan 20 doi: 10.1111/dmcn.14142. PMID: 30663041
Wohlgemuth M, Horlings CGC, van der Kooi EL, Gilhuis HJ, Hendriks JCM, van der Maarel SM, van Engelen BGM, Heijdra YF, Padberg GW
Neuromuscul Disord 2017 Jun;27(6):526-530. Epub 2017 Mar 22 doi: 10.1016/j.nmd.2017.03.008. PMID: 28416348
Andersen G, Dahlqvist JR, Vissing CR, Heje K, Thomsen C, Vissing J
J Neurol 2017 Mar;264(3):438-447. Epub 2016 Dec 20 doi: 10.1007/s00415-016-8361-3. PMID: 28000006

Therapy

Iodice R, Ugga L, Aruta F, Iovino A, Ruggiero L
Acta Myol 2020 Mar;39(1):29-31. Epub 2020 Mar 1 doi: 10.36185/2532-1900-005. PMID: 32607477Free PMC Article
Andersen G, Dahlqvist JR, Vissing CR, Heje K, Thomsen C, Vissing J
J Neurol 2017 Mar;264(3):438-447. Epub 2016 Dec 20 doi: 10.1007/s00415-016-8361-3. PMID: 28000006

Prognosis

Blaszczyk E, Lim C, Kellman P, Schmacht L, Gröschel J, Spuler S, Schulz-Menger J
J Cardiovasc Magn Reson 2021 Nov 8;23(1):130. doi: 10.1186/s12968-021-00812-6. PMID: 34743704Free PMC Article
Banerji CRS, Cammish P, Evangelista T, Zammit PS, Straub V, Marini-Bettolo C
Neuromuscul Disord 2020 Apr;30(4):315-328. Epub 2020 Mar 12 doi: 10.1016/j.nmd.2020.03.001. PMID: 32327287
Blaszczyk E, Grieben U, von Knobelsdorff-Brenkenhoff F, Kellman P, Schmacht L, Funk S, Spuler S, Schulz-Menger J
J Cardiovasc Magn Reson 2019 Apr 29;21(1):25. doi: 10.1186/s12968-019-0537-4. PMID: 31030674Free PMC Article
Steel D, Main M, Manzur A, Muntoni F, Munot P
Dev Med Child Neurol 2019 Aug;61(8):964-971. Epub 2019 Jan 20 doi: 10.1111/dmcn.14142. PMID: 30663041
Andersen G, Dahlqvist JR, Vissing CR, Heje K, Thomsen C, Vissing J
J Neurol 2017 Mar;264(3):438-447. Epub 2016 Dec 20 doi: 10.1007/s00415-016-8361-3. PMID: 28000006

Clinical prediction guides

Widholm P, Ahlgren A, Karlsson M, Romu T, Tawil R, Wagner KR, Statland JM, Wang LH, Shieh PB, van Engelen BGM, Cadavid D, Ronco L, Odueyungbo AO, Jiang JG, Mellion ML, Dahlqvist Leinhard O
Muscle Nerve 2022 Aug;66(2):183-192. Epub 2022 Jun 11 doi: 10.1002/mus.27638. PMID: 35585766
Blaszczyk E, Lim C, Kellman P, Schmacht L, Gröschel J, Spuler S, Schulz-Menger J
J Cardiovasc Magn Reson 2021 Nov 8;23(1):130. doi: 10.1186/s12968-021-00812-6. PMID: 34743704Free PMC Article
Blaszczyk E, Grieben U, von Knobelsdorff-Brenkenhoff F, Kellman P, Schmacht L, Funk S, Spuler S, Schulz-Menger J
J Cardiovasc Magn Reson 2019 Apr 29;21(1):25. doi: 10.1186/s12968-019-0537-4. PMID: 31030674Free PMC Article
Andersen G, Dahlqvist JR, Vissing CR, Heje K, Thomsen C, Vissing J
J Neurol 2017 Mar;264(3):438-447. Epub 2016 Dec 20 doi: 10.1007/s00415-016-8361-3. PMID: 28000006
Niiyama T, Higuchi I, Sakoda S, Matsumura T, Fukunaga H, Osame M
Muscle Nerve 2002 Mar;25(3):398-401. doi: 10.1002/mus.10040. PMID: 11870717

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