Phenotypes associated with the disease myofibrillar myopathy 10 (OMIM:619040):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/4. (PMID:32779703)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/4. (PMID:32779703)
- 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: 4/4. (PMID:32779703)
- Postexertional symptom exacerbation (HP:0030973): Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse. Evidence: PCS. Frequency: 2/4. (PMID:32779703)
- Broad neck (HP:0000475): Increased side-to-side width of the neck. Evidence: PCS. Frequency: 4/4. (PMID:32779703)
- Increased QRS voltage (HP:0025075): Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm). Evidence: PCS. Frequency: 1/4. (PMID:32779703)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: PCS. Frequency: 2/4. (PMID:32779703)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/4. (PMID:32779703)
- Increased circulating troponin I concentration (HP:0410173): An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. Evidence: PCS. Frequency: 2/4. (PMID:32779703)
- Prolonged QTc interval (HP:0005184): A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. Evidence: PCS. Frequency: 1/4. (PMID:32779703)
- Flexion contracture of finger (HP:0012785): Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. Evidence: PCS. Frequency: 3/4. (PMID:32779703)
- Percussion myotonia (HP:0010548): A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). Evidence: PCS. Frequency: 2/4. (PMID:32779703)
- Knee flexion contracture (HP:0006380): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: PCS. Frequency: 2/4. (PMID:32779703)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/4. (PMID:32779703)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 2/4. (PMID:32779703)
- 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:32779703)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: PCS. Frequency: 2/4. (PMID:32779703)
- Ankle flexion contracture (HP:0006466). Evidence: PCS. Frequency: 2/4. (PMID:32779703)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 2/4. (PMID:32779703)
- Sandal gap (HP:0001852): A widely spaced gap between the first toe (the great toe) and the second toe. Evidence: PCS. Frequency: 2/4. (PMID:32779703)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: PCS. Frequency: 2/4. (PMID:32779703)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: PCS. Frequency: 2/4. (PMID:32779703)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. Frequency: 2/4. (PMID:32779703)
- EMG: myopathic abnormalities (HP:0003458): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: PCS. Frequency: 2/4. (PMID:32779703)