U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Distal myopathy with anterior tibial onset(DMAT)

MedGen UID:
335706
•Concept ID:
C1847532
•
Disease or Syndrome
Synonym: Myopathy, Distal, with Anterior Tibial Onset
SNOMED CT: Distal myopathy with anterior tibial onset (782675008); Distal anterior compartment myopathy (782675008)
 
Gene (location): DYSF (2p13.2)
 
Monarch Initiative: MONDO:0011721
OMIM®: 606768
Orphanet: ORPHA178400

Definition

Distal myopathy with anterior tibial onset (DMAT) is an autosomal recessive muscle disorder with onset of anterior tibial weakness in the second or third decade of life. The disease course progresses rapidly to include lower and upper proximal muscles, necessitating use of a wheelchair 11 to 22 years from onset (Illa et al., 2001). [from OMIM]

Clinical features

From HPO
Loss of ambulation
MedGen UID:
332305
•Concept ID:
C1836843
•
Finding
Inability to walk in a person who previous had the ability to walk.
See: Feature record | Search on this feature
Myopathy
MedGen UID:
10135
•Concept ID:
C0026848
•
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
See: Feature record | Search on this feature
Proximal muscle weakness
MedGen UID:
113169
•Concept ID:
C0221629
•
Finding
A lack of strength of the proximal muscles.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDistal myopathy with anterior tibial onset
Follow this link to review classifications for Distal myopathy with anterior tibial onset in Orphanet.

Recent clinical studies

Etiology

Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile.
Belhassen I, Laroussi S, Sakka S, Rekik S, Lahkim L, Dammak M, Authier FJ, Mhiri C
Neuromuscul Disord 2023 Oct;33(10):718-727. Epub 2023 Aug 18 doi: 10.1016/j.nmd.2023.08.007. PMID: 37716854
Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report.
Katz J, Labilloy A, Lee A
BMC Pediatr 2022 Aug 30;22(1):515. doi: 10.1186/s12887-022-03561-2. PMID: 36042458Free PMC Article
Dysferlinopathies: Clinical and genetic variability.
Ivanova A, Smirnikhina S, Lavrov A
Clin Genet 2022 Dec;102(6):465-473. Epub 2022 Sep 6 doi: 10.1111/cge.14216. PMID: 36029111
Novel splicing dysferlin mutation causing myopathy with intra-familial heterogeneity.
Rekik S, Sakka S, Romdhane SB, Amer YB, Lehkim L, Farhat N, Mahfoudh KB, Authier FJ, Dammak M, Mhiri C
Mol Biol Rep 2020 Aug;47(8):5755-5761. Epub 2020 Jul 14 doi: 10.1007/s11033-020-05643-9. PMID: 32666437
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.
Zhao Z, Hu J, Sakiyama Y, Okamoto Y, Higuchi I, Li N, Shen H, Takashima H
Clin Neurol Neurosurg 2013 Aug;115(8):1234-7. Epub 2012 Dec 14 doi: 10.1016/j.clineuro.2012.11.010. PMID: 23254335

Diagnosis

Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review.
Park J, Moon YJ, Kim DS
Genes (Basel) 2023 Jan 12;14(1) doi: 10.3390/genes14010200. PMID: 36672942Free PMC Article
Dysferlinopathies.
Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N
Neurol India 2008 Jul-Sep;56(3):289-97. doi: 10.4103/0028-3886.43447. PMID: 18974555

Therapy

Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.
Maruyama R, Yokota T
Methods Mol Biol 2018;1828:79-90. doi: 10.1007/978-1-4939-8651-4_5. PMID: 30171536
New developments in exon skipping and splice modulation therapies for neuromuscular diseases.
Touznik A, Lee JJ, Yokota T
Expert Opin Biol Ther 2014 Jun;14(6):809-19. Epub 2014 Mar 12 doi: 10.1517/14712598.2014.896335. PMID: 24620745
Therapeutic exon skipping for dysferlinopathies?
Aartsma-Rus A, Singh KH, Fokkema IF, Ginjaar IB, van Ommen GJ, den Dunnen JT, van der Maarel SM
Eur J Hum Genet 2010 Aug;18(8):889-94. Epub 2010 Feb 10 doi: 10.1038/ejhg.2010.4. PMID: 20145676Free PMC Article

Prognosis

Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile.
Belhassen I, Laroussi S, Sakka S, Rekik S, Lahkim L, Dammak M, Authier FJ, Mhiri C
Neuromuscul Disord 2023 Oct;33(10):718-727. Epub 2023 Aug 18 doi: 10.1016/j.nmd.2023.08.007. PMID: 37716854
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr
Nat Genet 1998 Sep;20(1):31-6. doi: 10.1038/1682. PMID: 9731526

Clinical prediction guides

Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile.
Belhassen I, Laroussi S, Sakka S, Rekik S, Lahkim L, Dammak M, Authier FJ, Mhiri C
Neuromuscul Disord 2023 Oct;33(10):718-727. Epub 2023 Aug 18 doi: 10.1016/j.nmd.2023.08.007. PMID: 37716854
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr
Nat Genet 1998 Sep;20(1):31-6. doi: 10.1038/1682. PMID: 9731526

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...