Phenotypes associated with the disease X-linked scapuloperoneal muscular dystrophy (OMIM:300695, an entry in Online Mendelian Inheritance in Man):
- Hyporeflexia (HP:0001265, a Human Phenotype Ontology term): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 8/10. (PMID:8619529)
- Skeletal muscle atrophy (HP:0003202, a Human Phenotype Ontology term): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. (PMID:8619529)
- Achilles tendon contracture (HP:0001771, a Human Phenotype Ontology term): A contracture of the Achilles tendon. Evidence: PCS. Frequency: 1/14. (PMID:8619529)
- Elevated circulating creatine kinase activity (HP:0003236, a Human Phenotype Ontology term): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 8/8. (PMID:8619529)
- Steppage gait (HP:0003376, a Human Phenotype Ontology term): An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. Evidence: PCS. (PMID:8619529)
- Middle age onset (HP:0003596, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 2/14. (PMID:8619529)
- Scapular winging (HP:0003691, a Human Phenotype Ontology term): Abnormal protrusion of the scapula away from the surface of the back. Evidence: PCS. (PMID:8619529)
- Complete right bundle branch block (HP:0011712, a Human Phenotype Ontology term): A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. Evidence: PCS. Frequency: 1/14. (PMID:8619529)
- Scapuloperoneal myopathy (HP:0009054, a Human Phenotype Ontology term). Evidence: PCS. (PMID:8619529)
- Knee flexion contracture (HP:0006380, a Human Phenotype Ontology term): 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: 1/14. (PMID:8619529)
- Forearm supination contracture (HP:0034394, a Human Phenotype Ontology term): A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between. Evidence: PCS. Frequency: 2/14. (PMID:8619529)
- Lower limb muscle weakness (HP:0007340, a Human Phenotype Ontology term): Weakness of the muscles of the legs. Evidence: PCS. (PMID:8619529)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 12/14. (PMID:8619529)
- Foot dorsiflexor weakness (HP:0009027, a Human Phenotype Ontology term): Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. Evidence: PCS. Frequency: 13/13. (PMID:8619529)
- Waddling gait (HP:0002515, a Human Phenotype Ontology term): 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: PCS. (PMID:8619529)
- Myofibrillar myopathy (HP:0003715, a Human Phenotype Ontology term): Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. Evidence: TAS. (OMIM:300695)
- Proximal muscle weakness (HP:0003701, a Human Phenotype Ontology term): A lack of strength of the proximal muscles. Evidence: PCS. (PMID:8619529)
- X-linked dominant inheritance (HP:0001423, a Human Phenotype Ontology term): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: PCS. (PMID:18179901)