Phenotypes associated with the disease autosomal recessive limb-girdle muscular dystrophy type 2B (OMIM:253601):
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 7/7. (PMID:9009996)
- 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: 25/25. (PMID:9731527)
- Muscle fiber splitting (HP:0003555): Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. Evidence: IEA. (OMIM:253601)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 11/17. (PMID:9731527;PMID:9009996)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: IEA. (OMIM:253601)
- 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:9731527)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: IEA. (OMIM:253601)
- Increased connective tissue (HP:0009025): The presence of an abnormally increased amount of connective tissue. Evidence: IEA. (OMIM:253601)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 16/17. (PMID:9731527;PMID:9009996)
- Difficulty running (HP:0009046): Reduced ability to run. Evidence: TAS. (OMIM:253601)
- 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:9731527)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: PCS. Frequency: 6/25. (PMID:9731527)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: PCS. Frequency: 6/7. Onset: Middle age onset (HP:0003596). (PMID:9009996)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 32/32. (PMID:9731527;PMID:9009996)
- Hyperlordotic gait (HP:6001360): A gait abnormality characterized by excessive lumbar lordosis (swayback posture, i.e., an inward curvature of the lower spine) and gait pattern with forward tilt of the pelvis and increased lumbar curvature. Hyperlordotic gait is often as a compensatory mechanism for hip extensor weakness, proximal muscle weakness, or hip flexion contracture. Evidence: PCS. (PMID:11166162)
- Slowly progressive (HP:0003677): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: IEA. (OMIM:253601)
- EMG: myopathic abnormalities (HP:0003458): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: PCS. (PMID:9731527)
- 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: IEA. (OMIM:253601)