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Autosomal recessive limb-girdle muscular dystrophy type 2F(LGMDR6)

MedGen UID:
331308
•Concept ID:
C1832525
•
Disease or Syndrome
Synonyms: LGMDR6; Limb-girdle muscular dystrophy, type 2F; Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6
SNOMED CT: Autosomal recessive limb girdle muscular dystrophy type 2F (718177001); Limb girdle muscular dystrophy due to delta-sarcoglycan deficiency (718177001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): SGCD (5q33.2-33.3)
 
Monarch Initiative: MONDO:0011028
OMIM®: 601287
Orphanet: ORPHA219

Definition

Autosomal recessive limb-girdle muscular dystrophy-6 (LGMDR6) is a very rare and severe neuromuscular disorder with onset in most patients in the first decade of life. Generalized muscle weakness affecting predominantly proximal and distal muscles of the limbs is progressive, and patients require walking aids or become wheelchair-bound. Some patients have cardiomyopathy or heart rhythm abnormalities, or require ventilatory support (Alonso-Perez et al., 2022). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). [from OMIM]

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.
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Ventricular hypertrophy
MedGen UID:
87400
•Concept ID:
C0340279
•
Disease or Syndrome
Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.
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Muscular dystrophy
MedGen UID:
44527
•Concept ID:
C0026850
•
Disease or Syndrome
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
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Proximal muscle weakness
MedGen UID:
113169
•Concept ID:
C0221629
•
Finding
A lack of strength of the proximal muscles.
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Gowers sign
MedGen UID:
65865
•Concept ID:
C0234182
•
Finding
A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
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Difficulty climbing stairs
MedGen UID:
68676
•Concept ID:
C0239067
•
Finding
Reduced ability to climb stairs.
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Difficulty walking
MedGen UID:
86319
•Concept ID:
C0311394
•
Finding
Reduced ability to walk (ambulate).
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Calf muscle hypertrophy
MedGen UID:
335868
•Concept ID:
C1843057
•
Finding
Muscle hypertrophy affecting the calf muscles.
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Proximal amyotrophy
MedGen UID:
342591
•Concept ID:
C1850794
•
Disease or Syndrome
Amyotrophy (muscular atrophy) affecting the proximal musculature.
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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.
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive limb-girdle muscular dystrophy type 2F
Follow this link to review classifications for Autosomal recessive limb-girdle muscular dystrophy type 2F in Orphanet.

Recent clinical studies

Etiology

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J
Brain 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301. PMID: 34515763Free PMC Article
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
Moreira ES, Vainzof M, Marie SK, Nigro V, Zatz M, Passos-Bueno MR
J Med Genet 1998 Nov;35(11):951-3. doi: 10.1136/jmg.35.11.951. PMID: 9832045Free PMC Article

Diagnosis

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J
Brain 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301. PMID: 34515763Free PMC Article
Sarcoglycanopathies: an update.
Vainzof M, Souza LS, Gurgel-Giannetti J, Zatz M
Neuromuscul Disord 2021 Oct;31(10):1021-1027. Epub 2021 Jul 28 doi: 10.1016/j.nmd.2021.07.014. PMID: 34404573

Prognosis

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J
Brain 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301. PMID: 34515763Free PMC Article
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
Moreira ES, Vainzof M, Marie SK, Nigro V, Zatz M, Passos-Bueno MR
J Med Genet 1998 Nov;35(11):951-3. doi: 10.1136/jmg.35.11.951. PMID: 9832045Free PMC Article

Clinical prediction guides

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J
Brain 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301. PMID: 34515763Free PMC Article

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
    • NCBI Bookshelf
      Related information in NCBI Bookshelf
    • 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

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