Phenotypes associated with the disease autosomal recessive limb-girdle muscular dystrophy type 2H (OMIM:254110):
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:254110)
- 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:254110)
- Quadriceps muscle weakness (HP:0003731): Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). Evidence: IEA. (OMIM:254110)
- Gowers sign (HP:0003391): A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. Evidence: IEA. (OMIM:254110)
- Calf muscle pseudohypertrophy (HP:0003707): Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. Evidence: IEA. (OMIM:254110)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/2. (PMID:11822024)
- 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: IEA. (OMIM:254110)
- Waddling gait (HP:0002515): Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. Evidence: IEA. (OMIM:254110)
- Proximal amyotrophy (HP:0007126): Amyotrophy (muscular atrophy) affecting the proximal musculature. Evidence: PCS. Frequency: 2/2. (PMID:11822024)
- 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:254110)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 2/2. (PMID:11822024)
- Shoulder girdle muscle atrophy (HP:0003724): Amyotrophy affecting the muscles of the shoulder girdle. Evidence: IEA. (OMIM:254110)
- Neck flexor weakness (HP:0003722): Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). Evidence: IEA. (OMIM:254110)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:254110)
- 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: IEA. (OMIM:254110)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: PCS. Frequency: 1/2. (PMID:11822024)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:254110)
- 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: IEA. (OMIM:254110)
- Exercise-induced myalgia (HP:0003738): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: IEA. (OMIM:254110)
- 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:11822024)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: PCS. Frequency: 1/2. Onset: Late onset (HP:0003584). (PMID:11822024)
- Slowly progressive (HP:0003677): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: PCS. (PMID:11822024)
- 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: 1/1. (PMID:11822024)
- 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:254110)
- Pelvic girdle muscle atrophy (HP:0008988): Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles). Evidence: IEA. (OMIM:254110)