Phenotypes associated with the disease muscular dystrophy, limb-girdle, autosomal recessive 28 (OMIM:620375):
- 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: 5/5. (PMID:36745799)
- 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: 6/6. (PMID:36745799)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 1/1. (PMID:36745799)
- Left ventricular diastolic dysfunction (HP:0025168): Abnormal function of the left ventricule during left ventricular relaxation and filling. Evidence: PCS. Frequency: 1/4. (PMID:36745799)
- Increased circulating troponin T concentration (HP:0410174): An increased concentration of tropnin T 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: 4/4. (PMID:36745799)
- Reduced muscle fiber alpha dystroglycan (HP:0030099): Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. Evidence: PCS. Frequency: 1/1. (PMID:37167966)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/2. (PMID:37167966)
- Type 2 muscle fiber predominance (HP:0010602): An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). Evidence: PCS. Frequency: 1/1. (PMID:37167966)
- Increased endomysial connective tissue (HP:0100297): An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscle fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium. Evidence: PCS. Frequency: 2/3. (PMID:37167966)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 3/6. (PMID:36745799)
- Abnormal circulating creatine kinase activity (HP:0040081): Any deviation from the normal activity of creatine kinase in the blood circulation. Evidence: PCS. Frequency: 0/1. (PMID:36745799)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:37167966)
- Proximal lower limb muscle weakness (HP:0008994): A lack of strength of the proximal muscles of the legs. Evidence: PCS. Frequency: 5/6. (PMID:36745799)
- 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: PCS. Frequency: 4/4. (PMID:37167966)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 9/9. (PMID:37167966)
- Axial muscle weakness (HP:0003327): Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). Evidence: PCS. Frequency: 7/7. (PMID:37167966)
- Proximal upper limb muscle weakness (HP:0008997): A lack of strength of the proximal muscles of the arms. Evidence: PCS. Frequency: 4/6. (PMID:36745799)
- Upper limb amyotrophy (HP:0009129): Muscular atrophy involving the muscles of the upper limbs. Evidence: PCS. Frequency: 4/4. (PMID:36745799)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. Frequency: 3/3. (PMID:37167966)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 3/3. (PMID:36745799)
- 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: PCS. Frequency: 3/3. (PMID:37167966)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 4/6. (PMID:36745799)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: PCS. Frequency: 0/6. (PMID:36745799)
- Abnormality of alkaline phosphatase level (HP:0004379): An abnormality of alkaline phosphatase level. Evidence: PCS. Frequency: 0/5. (PMID:36745799)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:37167966)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: PCS. Frequency: 2/5. (PMID:36745799)
- Brain imaging abnormality (HP:0410263): An anomaly of metabolism or structure of the brain identified by imaging. Evidence: PCS. Frequency: 0/5. (PMID:36745799)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 1/1. (PMID:36745799)
- Respiratory insufficiency (HP:0002093). Evidence: PCS. Frequency: 2/5. (PMID:36745799)
- Calf muscle hypertrophy (HP:0008981): Muscle hypertrophy affecting the calf muscles. Evidence: PCS. Frequency: 3/3. (PMID:37167966)
- Increased intramyocellular lipid droplets (HP:0012240): An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images. Evidence: PCS. Frequency: 1/3. (PMID:37167966)
- Lower limb amyotrophy (HP:0007210): Muscular atrophy affecting the lower limb. Evidence: PCS. Frequency: 3/3. (PMID:36745799)
- Exercise-induced myalgia (HP:0003738): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: PCS. Frequency: 6/6. (PMID:36745799)
- 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:37167966)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: PCS. Frequency: 5/8. (PMID:37167966;PMID:36745799)
- Respiratory insufficiency due to muscle weakness (HP:0002747). Evidence: PCS. Frequency: 3/3. (PMID:37167966)
- Diminished deep tendon reflex (HP:0001315): A reduction (hyporeflexia) or complete absence (areflexia) of the involuntary muscle contraction normally elicited by a reflex stimulus, such as tapping a deep tendon. Evidence: PCS. Frequency: 6/6. (PMID:37167966)
- Respiratory failure requiring assisted ventilation (HP:0004887): A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. Evidence: PCS. Frequency: 1/1. (PMID:36745799)