Autosomal recessive limb-girdle muscular dystrophy type 2N(LGMD2N; MDDGC2; LGMDR14)

MedGen UID:: 461768
•Concept ID:: C3150418
•: Disease or Syndrome

Synonyms:	Limb-Girdle Muscular Dystrophy Type 2N; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED
SNOMED CT:	Autosomal recessive limb girdle muscular dystrophy type 2N (726617002)
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.	POMT2 (14q24.3)

Monarch Initiative:	MONDO:0013162
OMIM®:	613158
Orphanet:	ORPHA206559

Definition

MDDGC2 is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal (Biancheri et al., 2007). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). [from OMIM]

Clinical features

From HPO

Right bundle branch block

MedGen UID:: 88445
•Concept ID:: C0085615
•: Disease or Syndrome

A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.

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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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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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Skeletal muscle hypertrophy

MedGen UID:: 853739
•Concept ID:: C2265792
•: Finding

Abnormal increase in muscle size and mass not due to training.

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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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