Phenotypes associated with the disease myopathy, myosin storage, autosomal recessive (OMIM:255160):
- Scapuloperoneal amyotrophy (HP:0003697): Muscular atrophy in the distribution of shoulder girdle and peroneal muscles. Evidence: IEA. (OMIM:255160)
- 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: 2/2. (PMID:17372140)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 3/3. (PMID:17372140)
- Complete right bundle branch block (HP:0011712): A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. Evidence: PCS. Frequency: 1/3. (PMID:17372140)
- Right axis deviation (HP:0033567): A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used. Evidence: PCS. Frequency: 1/3. (PMID:17372140)
- Muscle fiber hyaline bodies (HP:0100306): Subsarcolemmal, eosinophilic glass-like regions in the cytoplasm of muscle fibers. Hyaline bodies show significant reactivity to myofibrillar ATPase after acid pre-incubation and with immunohistochemistry, show intense reactivity with only slow myosin heavy chain. Electron microscopy of the affected areas show a lack of myofibrils and a uniform, finely granular matrix, sometimes suggesting a filamentous nature, containing few scattered nuclei and mitochondria. Evidence: PCS. Frequency: 3/3. (PMID:17372140)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 1/3. (PMID:17372140)
- Late young adult onset (HP:0025710): Onset of disease at an age of greater than or equal to 25 to under 40 years. Evidence: PCS. Frequency: 1/3. (PMID:17372140)
- Proximal amyotrophy (HP:0007126): Amyotrophy (muscular atrophy) affecting the proximal musculature. Evidence: PCS. Frequency: 1/3. (PMID:17372140)
- Scapuloperoneal weakness (HP:0003704). Evidence: IEA. (OMIM:255160)
- Type 1 muscle fiber predominance (HP:0003803): An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). Evidence: IEA. (OMIM:255160)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. (PMID:17372140)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 1/3. (PMID:17372140)
- Limb-girdle muscle weakness (HP:0003325): Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. Evidence: PCS. Frequency: 1/3. (PMID:17372140)
- Dilated cardiomyopathy (HP:0001644): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: TAS. (OMIM:255160)
- Exertional dyspnea (HP:0002875): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: PCS. Frequency: 2/3. (PMID:17372140)
- Myopathic facies (HP:0002058): A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. Evidence: PCS. Frequency: 1/3. (PMID:17372140)
- Centrally nucleated skeletal muscle fibers (HP:0003687): An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). Evidence: IEA. (OMIM:255160)
- Fourth heart sound (HP:0031659): The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction. Evidence: PCS. Frequency: 1/3. (PMID:17372140)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/3. (PMID:17372140)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 3/3. (PMID:17372140)
- Biventricular hypertrophy (HP:0200128): Thickening of the heart walls in both ventricles. Evidence: PCS. Frequency: 2/3. (PMID:17372140)
- Elevated jugular venous pressure (HP:0030848): Increased jugular venous pressure. Evidence: PCS. Frequency: 2/3. (PMID:17372140)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. (OMIM:255160)
- Sinus tachycardia (HP:0011703): Heart rate of greater than 100 beats per minute. Evidence: PCS. Frequency: 1/4. (PMID:17372140)
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: PCS. Frequency: 1/3. (PMID:17372140)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: PCS. Frequency: 3/3. (PMID:17372140)
- Calf muscle hypertrophy (HP:0008981): Muscle hypertrophy affecting the calf muscles. Evidence: PCS. Frequency: 1/3. (PMID:17372140)
- Death in early adulthood (HP:0100613): Death between the age of 16 and 40 years. Evidence: PCS. Frequency: 1/3. (PMID:17372140)
- 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:17372140)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: PCS. Frequency: 2/3. (PMID:17372140)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: PCS. Frequency: 1/3. Onset: Middle age onset (HP:0003596). (PMID:17372140)
- Thoracic scoliosis (HP:0002943). Evidence: PCS. Frequency: 3/3. (PMID:17372140)
- Slowly progressive (HP:0003677): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: PCS. (PMID:17372140)
- 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: 1/1. (PMID:17372140)