Autosomal dominant limb-girdle muscular dystrophy type 1H(LGMD1H)

MedGen UID:: 462136
•Concept ID:: C3150786
•: Disease or Syndrome

Synonym:	Limb-girdle muscular dystrophy, type 1H
SNOMED CT:	Autosomal dominant limb-girdle muscular dystrophy type 1H (771334000)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0013297
OMIM®:	613530
Orphanet:	ORPHA238755

Definition

Limb-girdle muscular dystrophy type 1H (LGMD1H) is an autosomal dominant disorder characterized by adult onset of progressive proximal muscle weakness affecting both the upper and lower limbs (Bisceglia et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 (603511). [from OMIM]

Clinical features

From HPO

Shoulder girdle muscle atrophy

MedGen UID:: 339837
•Concept ID:: C1847766
•: Finding

Amyotrophy affecting the muscles of the shoulder girdle.

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Hyporeflexia

MedGen UID:: 195967
•Concept ID:: C0700078
•: Finding

Reduction of neurologic reflexes such as the knee-jerk reaction.

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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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Muscle weakness

MedGen UID:: 57735
•Concept ID:: C0151786
•: Finding

Reduced strength of muscles.

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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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Centrally nucleated skeletal muscle fibers

MedGen UID:: 330782
•Concept ID:: C1842170
•: Finding

An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).

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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 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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