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Autosomal recessive limb-girdle muscular dystrophy type 2G(LGMDR7)

MedGen UID:: 400895
•Concept ID:: C1866008
•: Disease or Syndrome

Synonyms:	LGMDR7; Limb-girdle muscular dystrophy, type 2G; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; Telethoninopathy
SNOMED CT:	Autosomal recessive limb girdle muscular dystrophy type 2G (720522001); Limb girdle muscular dystrophy due to telethonin deficiency (720522001)
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): Gene(s) directly associated with this condition or phenotype.	TCAP (17q12)

Monarch Initiative:	MONDO:0011170
OMIM®:	601954
Orphanet:	ORPHA34514

Definition

Autosomal recessive limb-girdle muscular dystrophy-7 (LGMDR7), also known as LGMDR7, is a skeletal muscle disorder with age of onset in the first or second decade of life. Weakness of proximal and some distal muscles progresses to inability to walk by the third or fourth decade, although some individuals retain the ability to walk without support later. Heart involvement may be present. Creatine kinase levels are increased as much as 30-fold (summary by Moreira et al., 2000). For a general description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). [from OMIM]

Clinical features

From HPO

Distal lower limb muscle weakness

MedGen UID:: 324514
•Concept ID:: C1836450
•: Finding

Reduced strength of the distal musculature of the legs.

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Areflexia of lower limbs

MedGen UID:: 347285
•Concept ID:: C1856694
•: Finding

Inability to elicit tendon reflexes in the lower limbs.

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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.

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Gait disturbance

MedGen UID:: 107895
•Concept ID:: C0575081
•: Finding

The term gait disturbance can refer to any disruption of the ability to walk.

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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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Difficulty climbing stairs

MedGen UID:: 68676
•Concept ID:: C0239067
•: Finding

Reduced ability to climb stairs.

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Difficulty running

MedGen UID:: 108251
•Concept ID:: C0560346
•: Finding

Reduced ability to run.

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Distal lower limb amyotrophy

MedGen UID:: 324515
•Concept ID:: C1836451
•: Disease or Syndrome

Muscular atrophy of distal leg muscles.

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Calf muscle hypertrophy

MedGen UID:: 335868
•Concept ID:: C1843057
•: Finding

Muscle hypertrophy affecting the calf muscles.

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Increased variability in muscle fiber diameter

MedGen UID:: 336019
•Concept ID:: C1843700
•: Finding

An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.

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Rimmed vacuoles

MedGen UID:: 340089
•Concept ID:: C1853932
•: Finding

Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.

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Proximal muscle weakness in lower limbs

MedGen UID:: 356423
•Concept ID:: C1866010
•: Finding

A lack of strength of the proximal muscles of the legs.

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Proximal muscle weakness in upper limbs

MedGen UID:: 356424
•Concept ID:: C1866012
•: Finding

A lack of strength of the proximal muscles of the arms.

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Proximal upper limb amyotrophy

MedGen UID:: 356138
•Concept ID:: C1866013
•: Finding

Muscular atrophy affecting proximally located muscles of the arms.

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Increased connective tissue

MedGen UID:: 400898
•Concept ID:: C1866021
•: Finding

The presence of an abnormally increased amount of connective tissue.

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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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Abnormality of limbs
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Abnormality of the musculoskeletal system
Abnormality of the nervous system
- Gait disturbance

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLimb-girdle muscular dystrophy
- CROGVAutosomal recessive limb-girdle muscular dystrophy
- CROGVMuscular dystrophy, limb-girdle, autosomal dominant

Phenotypic abnormality
- Abnormality of limbs
  - Abnormality of the musculature of the limbs
    - Limb-girdle muscle atrophy
      - Limb-girdle muscular dystrophy
        Autosomal recessive limb-girdle muscular dystrophy
        Autosomal recessive limb-girdle muscular dystrophy type 2G

Follow this link to review classifications for Autosomal recessive limb-girdle muscular dystrophy type 2G in Orphanet.

Recent clinical studies

Etiology

Distal myopathy due to TCAP variants in four unrelated Chinese patients.

Lv X, Gao F, Dai T, Zhao D, Jiang W, Geng H, Liu F, Lin P, Yan C
Neurogenetics 2021 Mar;22(1):1-10. Epub 2020 Aug 6 doi: 10.1007/s10048-020-00623-4. PMID: 32761539

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.

Chamova T, Bichev S, Todorov T, Gospodinova M, Taneva A, Kastreva K, Zlatareva D, Krupev M, Hadjiivanov R, Guergueltcheva V, Grozdanova L, Tzoneva D, Huebner A, V der Hagen M, Schoser B, Lochmüller H, Todorova A, Tournev I
Neuromuscul Disord 2018 Aug;28(8):625-632. Epub 2018 May 17 doi: 10.1016/j.nmd.2018.05.005. PMID: 29935994

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.

Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE
Nat Genet 2000 Feb;24(2):163-6. doi: 10.1038/72822. PMID: 10655062

See all (3)

Diagnosis

Distal myopathy due to TCAP variants in four unrelated Chinese patients.

Lv X, Gao F, Dai T, Zhao D, Jiang W, Geng H, Liu F, Lin P, Yan C
Neurogenetics 2021 Mar;22(1):1-10. Epub 2020 Aug 6 doi: 10.1007/s10048-020-00623-4. PMID: 32761539

See all (1)

Prognosis

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.

Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE
Nat Genet 2000 Feb;24(2):163-6. doi: 10.1038/72822. PMID: 10655062

See all (2)

Clinical prediction guides

Distal myopathy due to TCAP variants in four unrelated Chinese patients.

Lv X, Gao F, Dai T, Zhao D, Jiang W, Geng H, Liu F, Lin P, Yan C
Neurogenetics 2021 Mar;22(1):1-10. Epub 2020 Aug 6 doi: 10.1007/s10048-020-00623-4. PMID: 32761539

See all (1)

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Autosomal recessive limb-girdle muscular dystrophy type 2G(LGMDR7)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

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