- Generalized muscle weakness (HP:0003324): Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:267)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Hamstring contractures (HP:0003089). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Spinal rigidity (HP:0003306): Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Hyperlordosis (HP:0003307): Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Scapular winging (HP:0003691): Abnormal protrusion of the scapula away from the surface of the back. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Congenital finger flexion contractures (HP:0005879): Multiple bent (flexed) finger joints that cannot be straightened actively or passively. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Ankle flexion contracture (HP:0006466). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Pelvic girdle amyotrophy (HP:0008946): Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Calf muscle hypertrophy (HP:0008981): Muscle hypertrophy affecting the calf muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Scapular muscle atrophy (HP:0009060): Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Pectoralis amyotrophy (HP:0012037): Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. This finding is often manifested by prominent axillary creases or double axillary creases. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Tip-toe gait (HP:0030051): An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
- Wrist flexion contracture (HP:0001239): A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:267)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:267)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:267)
These phenotypes are associated with the disease Calpain-3-related limb-girdle muscular dystrophy R1 (ORPHA:267).