Phenotypes associated with the disease muscular dystrophy, limb-girdle, autosomal recessive 27 (OMIM:619566):
- Achilles tendon contracture (HP:0001771): A contracture of the Achilles tendon. Evidence: PCS. Frequency: 11/23. (PMID:33861953)
- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: PCS. Frequency: 22/23. (PMID:33861953)
- 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: 10/22. (PMID:33861953)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: PCS. Frequency: 3/23. (PMID:33861953)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 4/12. (PMID:33861953)
- Weakness of facial musculature (HP:0030319): Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). Evidence: PCS. Frequency: 4/23. (PMID:33861953)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/12. (PMID:33861953)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/12. (PMID:33861953)
- Reduced forced vital capacity (HP:0032341): An abnormal reduction in the amount of air a person can expel following maximal inspiration. Evidence: PCS. Frequency: 13/20. (PMID:33861953)
- Proximal lower limb muscle weakness (HP:0008994): A lack of strength of the proximal muscles of the legs. Evidence: PCS. Frequency: 23/23. (PMID:33861953)
- Proximal upper limb muscle weakness (HP:0008997): A lack of strength of the proximal muscles of the arms. Evidence: PCS. Frequency: 23/23. (PMID:33861953)
- Spinal rigidity (HP:0003306): Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. Evidence: PCS. Frequency: 7/23. (PMID:33861953)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 8/23. (PMID:33861953)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/12. (PMID:33861953)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 12/23. (PMID:33861953)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 3/23. (PMID:33861953)
- Distal upper limb muscle weakness (HP:0008959): Reduced strength of the distal musculature of the arms. Evidence: PCS. Frequency: 15/23. (PMID:33861953)
- Shoulder flexion contracture (HP:0003044): Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. Evidence: PCS. Frequency: 3/23. (PMID:33861953)
- 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. Frequency: 12/14. (PMID:33861953)
- 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: 4/23. (PMID:33861953)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: PCS. Frequency: 18/23. (PMID:33861953)
- Wolff-Parkinson-White syndrome (HP:0001716): A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. Evidence: PCS. Frequency: 1/23. (PMID:33861953)
- Autistic behavior (HP:0000729): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: PCS. Frequency: 1/23. (PMID:33861953)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 4/23. (PMID:33861953)
- 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:33861953)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: PCS. Frequency: 2/23. (PMID:33861953)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: PCS. Frequency: 8/23. (PMID:33861953)
- Skeletal muscle hypertrophy (HP:0003712): Abnormal increase in muscle size and mass not due to training. Evidence: PCS. Frequency: 6/23. (PMID:33861953)
- 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: 6/23. (PMID:33861953)
- Neck muscle weakness (HP:0000467): Decreased strength of the neck musculature. Evidence: PCS. Frequency: 19/23. (PMID:33861953)
- 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: 16/19. (PMID:33861953)
- Increased variability in muscle fiber diameter (HP:0003557): An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. Evidence: PCS. Frequency: 2/14. (PMID:33861953)