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Autosomal recessive limb-girdle muscular dystrophy type 2B(LGMDR2)

MedGen UID:: 338149
•Concept ID:: C1850889
•: Disease or Syndrome

Synonyms:	LGMDR2; Limb-girdle muscular dystrophy, type 2B; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; Muscular dystrophy, limb-girdle, type 3
SNOMED CT:	Autosomal recessive limb girdle muscular dystrophy type 2B (718179003); Limb girdle muscular dystrophy due to dysferlin deficiency (718179003)
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.	DYSF (2p13.2)

Monarch Initiative:	MONDO:0009676
OMIM®:	253601
Orphanet:	ORPHA268

Disease characteristics

Excerpted from the GeneReview: Dysferlinopathy

Dysferlinopathy includes a spectrum of muscle disease characterized by two major phenotypes: Miyoshi muscular dystrophy (MMD) and limb-girdle muscular dystrophy type 2B (LGMD2B); and two minor phenotypes: asymptomatic hyperCKemia and distal myopathy with anterior tibial onset (DMAT). MMD (median age of onset 19 years) is characterized by muscle weakness and atrophy, most marked in the distal parts of the legs, especially the gastrocnemius and soleus muscles. Over a period of years, the weakness and atrophy spread to the thighs and gluteal muscles. The forearms may become mildly atrophic with decrease in grip strength; the small muscles of the hands are spared. LGMD2B is characterized by early weakness and atrophy of the pelvic and shoulder girdle muscles in adolescence or young adulthood, with slow progression. Other phenotypes in this spectrum are scapuloperoneal syndrome and congenital muscular dystrophy. Asymptomatic hyperCKemia is characterized by marked elevation of serum CK concentration only. DMAT is characterized by early and predominant distal muscle weakness, particularly of the muscles of the anterior compartment of the legs. [from GeneReviews]

Authors:
Masashi Aoki | Toshiaki Takahashi view full author information

Clinical features

From HPO

Fatigue

MedGen UID:: 41971
•Concept ID:: C0015672
•: Sign or Symptom

A subjective feeling of tiredness characterized by a lack of energy and motivation.

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Loss of ambulation

MedGen UID:: 332305
•Concept ID:: C1836843
•: Finding

Inability to walk in a person who previous had 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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Proximal muscle weakness

MedGen UID:: 113169
•Concept ID:: C0221629
•: Finding

A lack of strength of the proximal muscles.

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Difficulty climbing stairs

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

Reduced ability to climb stairs.

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Muscular atrophy

MedGen UID:: 892680
•Concept ID:: C0541794
•: Pathologic Function

The presence of skeletal muscular atrophy (which is also known as amyotrophy).

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Difficulty running

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

Reduced ability to run.

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Muscle fiber splitting

MedGen UID:: 322813
•Concept ID:: C1836057
•: Finding

Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.

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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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Increased connective tissue

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

The presence of an abnormally increased amount of connective tissue.

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EMG: myopathic abnormalities

MedGen UID:: 867362
•Concept ID:: C4021726
•: Pathologic Function

The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.

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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 metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Abnormality of the musculoskeletal system
Abnormality of the nervous system
- Loss of ambulation
Constitutional symptom
- Fatigue

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 2B

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

Professional guidelines

PubMed

The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.

Izumi R, Takahashi T, Suzuki N, Niihori T, Ono H, Nakamura N, Katada S, Kato M, Warita H, Tateyama M, Aoki Y, Aoki M
Hum Mutat 2020 Sep;41(9):1540-1554. Epub 2020 Jul 5 doi: 10.1002/humu.24036. PMID: 32400077

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Recent clinical studies

Prognosis

The third human FER-1-like protein is highly similar to dysferlin.

Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R
Genomics 2000 Sep 15;68(3):313-21. doi: 10.1006/geno.2000.6290. PMID: 10995573

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Clinical prediction guides

The third human FER-1-like protein is highly similar to dysferlin.

Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R
Genomics 2000 Sep 15;68(3):313-21. doi: 10.1006/geno.2000.6290. PMID: 10995573

See all (1)

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Autosomal recessive limb-girdle muscular dystrophy type 2B(LGMDR2)

Disease characteristics

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

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