- Facial palsy (HP:0010628): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: IEA. (OMIM:611307)
- 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: IEA. (OMIM:611307)
- 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: 12/12. (PMID:20096397)
- 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: 5/10. (PMID:20096397)
- 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:20096397)
- Quadriceps muscle atrophy (HP:0009050): Muscular atrophy involving the quadriceps muscle. Evidence: PCS. Frequency: 6/7. (PMID:20096397)
- Increased connective tissue (HP:0009025): The presence of an abnormally increased amount of connective tissue. Evidence: IEA. (OMIM:611307)
- Calf muscle hypertrophy (HP:0008981): Muscle hypertrophy affecting the calf muscles. Evidence: PCS. Frequency: 4/12. (PMID:20096397)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/10. (PMID:20096397)
- Pelvic girdle muscle weakness (HP:0003749): Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. Evidence: PCS. Frequency: 12/12. (PMID:20096397)
- 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:20096397)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 11/12. (PMID:20096397)
- Shoulder girdle muscle weakness (HP:0003547): The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. Evidence: IEA. (OMIM:611307)
- EMG: myopathic abnormalities (HP:0003458): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: IEA. (OMIM:611307)
- Myalgia (HP:0003326): Pain in muscle. Evidence: IEA. (OMIM:611307)
These phenotypes are associated with the disease autosomal recessive limb-girdle muscular dystrophy type 2L (OMIM:611307).