Phenotypes associated with the disease Miyoshi muscular dystrophy 3 (OMIM:613319):
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 12/12. (PMID:20096397)
- Quadriceps muscle weakness (HP:0003731): Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). Evidence: PCS. Frequency: 5/12. (PMID:20096397)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 6/12. (PMID:20096397)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: PCS. Frequency: 7/12. (PMID:20096397)
- Distal upper limb muscle weakness (HP:0008959): Reduced strength of the distal musculature of the arms. Evidence: PCS. Frequency: 0/12. (PMID:20096397)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: PCS. (PMID:20096397)
- Calf muscle hypertrophy (HP:0008981): Muscle hypertrophy affecting the calf muscles. Evidence: PCS. Frequency: 4/12. (PMID:20096397)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 6/12. (PMID:20096397)
- Difficulty running (HP:0009046): Reduced ability to run. Evidence: PCS. (PMID:20096397)
- Muscular dystrophy (HP:0003560): 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. Evidence: PCS. (PMID:20096397)
- 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:20096397)
- Quadriceps muscle atrophy (HP:0009050): Muscular atrophy involving the quadriceps muscle. Evidence: PCS. Frequency: 7/12. (PMID:20096397)