Brody myopathy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 4
OrphanetNr: 53347
OMIM Id: 601003
ICD-10: G71.8
UMLs: C1832918
MeSH: C536607
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Non-dystrophic myopathy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of protein SERCA1
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0003394) Muscle cramps 106 / 7739
2
(OMIM) Sarcoplasmic reticulum deficient in both Ca(2+) uptake and Ca(2+)-ATPase. 1 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) Painless muscle cramping. Exercise-induced impaired muscle relaxation. 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brody (1969) defined a disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation. In a normal muscle contraction/relaxation cycle, Ca(2+) is released from the sarcoplasmic reticulum into the cytoplasm, where ...
Molecular genetics OMIM Zhang et al. (1995) isolated and characterized cDNA and genomic DNA encoding SERCA1. Sequencing in 3 Brody disease patients showed no mutations in the coding and splice junction sequences.

The MacLennan group (Odermatt et al., 1996) ...