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Autosomal recessive limb-girdle muscular dystrophy type 2T(MDDGC14; LGMD2T; LGMDR19)

MedGen UID:: 1377325
•Concept ID:: C4518000
•: Disease or Syndrome

Synonyms:	Limb-girdle muscular dystrophy-dystroglycanopathy, type C14; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2T; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, GMPPB-RELATED
SNOMED CT:	Autosomal recessive limb girdle muscular dystrophy type 2T (732930007)
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.	GMPPB (3p21.31)

Monarch Initiative:	MONDO:0014142
OMIM®:	615352
Orphanet:	ORPHA363623

Definition

MDDGC14 is an autosomal recessive form of muscular dystrophy characterized by onset in early childhood of mild proximal muscle weakness. Some patients may have additional features, such as mild intellectual disability or seizures. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013). Some patients with GMPPB mutations may show features consistent with a congenital myasthenic syndrome (see, e.g., CMS1A; 601462), such as fatigability and decremental compound muscle action potential response to repetitive nerve stimulation; these patients may show a positive therapeutic response to treatment with pyridostigmine (Belaya et al., 2015). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). [from OMIM]

Clinical features

From HPO

Exercise intolerance

MedGen UID:: 603270
•Concept ID:: C0424551
•: Finding

A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.

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Limb-girdle muscle weakness

MedGen UID:: 347625
•Concept ID:: C1858127
•: Finding

Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.

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Cardiomyopathy

MedGen UID:: 209232
•Concept ID:: C0878544
•: Disease or Syndrome

A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.

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Intellectual disability, mild

MedGen UID:: 10044
•Concept ID:: C0026106
•: Mental or Behavioral Dysfunction

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.

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Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

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Motor delay

MedGen UID:: 381392
•Concept ID:: C1854301
•: Finding

A type of Developmental delay characterized by a delay in acquiring motor skills.

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Hypotonia

MedGen UID:: 10133
•Concept ID:: C0026827
•: Finding

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

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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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Hypoglycosylation of alpha-dystroglycan

MedGen UID:: 863535
•Concept ID:: C4015098
•: Finding

A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.

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Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

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Respiratory insufficiency

MedGen UID:: 11197
•Concept ID:: C0035229
•: Pathologic Function

Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.

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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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Nystagmus

MedGen UID:: 45166
•Concept ID:: C0028738
•: Disease or Syndrome

Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

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Cataract

MedGen UID:: 39462
•Concept ID:: C0086543
•: Disease or Syndrome

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

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Show all Hide all

Abnormality of limbs
- Limb-girdle muscle weakness
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Abnormality of the cardiovascular system
- Cardiomyopathy
Abnormality of the eye
- Cataract
- Nystagmus
Abnormality of the musculoskeletal system
Abnormality of the nervous system
Abnormality of the respiratory system
- Respiratory insufficiency
Constitutional symptom
- Exercise intolerance

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal recessive limb-girdle muscular dystrophy type 2T

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 2T

Recent clinical studies

Diagnosis

Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.

Fadaee M, Kariminejad A, Fattahi Z, Nafissi S, Godarzi HR, Beheshtian M, Vazehan R, Akbari MR, Kahrizi K, Najmabadi H
Neuromuscul Disord 2016 Apr-May;26(4-5):277-82. Epub 2016 Feb 15 doi: 10.1016/j.nmd.2016.02.003. PMID: 27020652

Novel mutations in three patients with LGMD2C with phenotypic differences.

Vermeer S, Verrips A, Willemsen MA, ter Laak HJ, Ginjaar IB, Hamel BC
Pediatr Neurol 2004 Apr;30(4):291-4. doi: 10.1016/j.pediatrneurol.2003.11.006. PMID: 15087111

See all (2)

Prognosis

Novel mutations in three patients with LGMD2C with phenotypic differences.

Vermeer S, Verrips A, Willemsen MA, ter Laak HJ, Ginjaar IB, Hamel BC
Pediatr Neurol 2004 Apr;30(4):291-4. doi: 10.1016/j.pediatrneurol.2003.11.006. PMID: 15087111

See all (1)

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Autosomal recessive limb-girdle muscular dystrophy type 2T(MDDGC14; LGMD2T; LGMDR19)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Prognosis

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Genetic Testing Registry

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