Myopathy due to calsequestrin and SERCA1 protein overload(VMCQA)

MedGen UID:: 864061
•Concept ID:: C4015624
•: Disease or Syndrome

Synonym:	Myopathy, vacuolar, with casq1 aggregates
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. Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Autosomal dominant inheritance (Orphanet) Unknown inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	CASQ1 (1q23.2)

Monarch Initiative:	MONDO:0014546
OMIM®:	616231
Orphanet:	ORPHA88635

Definition

Vacuolar myopathy with CASQ1 aggregates is an autosomal dominant mild muscle disorder characterized by adult onset of muscle cramping and weakness as well as increased levels of serum creatine kinase (CK). The disorder is not progressive, and some patients may be asymptomatic (summary by Rossi et al., 2014). [from OMIM]

Clinical features

From HPO

Myalgia

MedGen UID:: 68541
•Concept ID:: C0231528
•: Sign or Symptom

Pain in muscle.

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Easy fatigability

MedGen UID:: 373253
•Concept ID:: C1837098
•: Finding

Increased susceptibility to fatigue.

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Muscle spasm

MedGen UID:: 52431
•Concept ID:: C0037763
•: Sign or Symptom

Sudden and involuntary contractions of one or more muscles.

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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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Muscle fiber calsequestrin 1-containing inclusion bodies

MedGen UID:: 1841576
•Concept ID:: C5826786
•: Finding

The presence of inclusion bodies within the cytoplasm of muscle cells that demonstrate immunoreactivity for calsequestrin 1.

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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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