Phenotypes associated with the disease myopathy due to myoadenylate deaminase deficiency (OMIM:615511):
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 1/1. (PMID:21343608)
- Reduced muscle myoadenylate deaminase activity (HP:0034529): Diminished activity of the enzyme myoadenylate deaminase. Myoadenylate deaminase is the muscle isoform of adenosine monophosphate (AMP) deaminase and catalyzes the deamination of AMP to inosine monophosphate and ammonia. Evidence: TAS. (OMIM:615511)
- Increased muscle fatiguability (HP:0003750): An abnormal, increased fatiguability of the musculature. Evidence: PCS. (PMID:1631143)
- Rhabdomyolysis (HP:0003201): Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. Evidence: PCS. Frequency: 1/10. (PMID:1631143)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: PCS. Frequency: 1/1. (PMID:21343608)
- Hypotonia (HP:0001252): 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. Evidence: PCS. Frequency: 1/10. (PMID:21343608)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 1/1. (PMID:21343608)
- Exercise-induced myalgia (HP:0003738): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: PCS. Frequency: 8/10. (PMID:1631143)
- Autosomal recessive inheritance (HP:0000007): 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). Evidence: PCS. (PMID:1631143)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 11/11. (PMID:1631143;PMID:21343608)