U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Firm muscles

MedGen UID:
342558
Concept ID:
C1850656
Finding
HPO: HP:0003725

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFirm muscles

Conditions with this feature

Glycogen storage disease, type II
MedGen UID:
5340
Concept ID:
C0017921
Disease or Syndrome
Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; individuals with onset before age 12 months with cardiomyopathy) may be apparent in utero but more typically onset is at the median age of four months with hypotonia, generalized muscle weakness, feeding difficulties, failure to thrive, respiratory distress, and hypertrophic cardiomyopathy. Without treatment by enzyme replacement therapy (ERT), IOPD commonly results in death by age two years from progressive left ventricular outflow obstruction and respiratory insufficiency. Late-onset Pompe disease (LOPD; including: (a) individuals with onset before age 12 months without cardiomyopathy; and (b) all individuals with onset after age 12 months) is characterized by proximal muscle weakness and respiratory insufficiency; clinically significant cardiac involvement is uncommon.
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
MedGen UID:
350678
Concept ID:
C1862472
Disease or Syndrome
Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009). There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition. For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). Genetic Heterogeneity of Distal Arthrogryposis 5 A subtype of DA5 due to mutation in the ECEL1 gene (605896) on chromosome 2q36 has been designated DA5D (615065). See NOMENCLATURE.
Richieri Costa-da Silva syndrome
MedGen UID:
419686
Concept ID:
C2930978
Disease or Syndrome
A rare genetic myotonic syndrome characterised by childhood onset of progressive and severe myotonia (with generalised muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984.

Professional guidelines

PubMed

Braun C, McRobert CJ
Cochrane Database Syst Rev 2019 May 10;5(5):CD004962. doi: 10.1002/14651858.CD004962.pub4. PMID: 31074847Free PMC Article
Ueblacker P, Haensel L, Mueller-Wohlfahrt HW
J Sports Sci 2016 Dec;34(24):2329-2337. Epub 2016 Nov 16 doi: 10.1080/02640414.2016.1252849. PMID: 27849130
Couppé C, Svensson RB, Silbernagel KG, Langberg H, Magnusson SP
J Orthop Sports Phys Ther 2015 Nov;45(11):853-63. Epub 2015 Oct 15 doi: 10.2519/jospt.2015.5910. PMID: 26471850

Recent clinical studies

Etiology

Zapata-Aldana E, Al-Mobarak SB, Karp N, Campbell C
Am J Med Genet A 2019 Jun;179(6):1034-1041. Epub 2019 Apr 1 doi: 10.1002/ajmg.a.61143. PMID: 30938034
Castori M, Rinaldi R, Barboni L, Tanzilli P, Bamshad M, Grammatico P
Am J Med Genet A 2009 Mar;149A(3):482-6. doi: 10.1002/ajmg.a.32668. PMID: 19213027

Diagnosis

Zapata-Aldana E, Al-Mobarak SB, Karp N, Campbell C
Am J Med Genet A 2019 Jun;179(6):1034-1041. Epub 2019 Apr 1 doi: 10.1002/ajmg.a.61143. PMID: 30938034
Castori M, Rinaldi R, Barboni L, Tanzilli P, Bamshad M, Grammatico P
Am J Med Genet A 2009 Mar;149A(3):482-6. doi: 10.1002/ajmg.a.32668. PMID: 19213027
Williams MS, Elliott CG, Bamshad MJ
Am J Med Genet A 2007 Apr 1;143A(7):752-6. doi: 10.1002/ajmg.a.31648. PMID: 17345626

Prognosis

Williams MS, Elliott CG, Bamshad MJ
Am J Med Genet A 2007 Apr 1;143A(7):752-6. doi: 10.1002/ajmg.a.31648. PMID: 17345626

Clinical prediction guides

Castori M, Rinaldi R, Barboni L, Tanzilli P, Bamshad M, Grammatico P
Am J Med Genet A 2009 Mar;149A(3):482-6. doi: 10.1002/ajmg.a.32668. PMID: 19213027
Williams MS, Elliott CG, Bamshad MJ
Am J Med Genet A 2007 Apr 1;143A(7):752-6. doi: 10.1002/ajmg.a.31648. PMID: 17345626

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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...