Phenotypes associated with the disease congenital myopathy 23 (OMIM:609285, an entry in Online Mendelian Inheritance in Man):
- Hypertonia (HP:0001276, a Human Phenotype Ontology term): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: PCS. Frequency: 1/8. (PMID:23378224)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/9. (PMID:11738357;PMID:23378224)
- 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: 4/8. (PMID:23378224)
- Muscle fiber splitting (HP:0003555, a Human Phenotype Ontology term): 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: PCS. Frequency: 4/7. (PMID:23378224)
- Seizure (HP:0001250, a Human Phenotype Ontology term): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 1/8. (PMID:23378224)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/2. (PMID:11738357)
- Scapular winging (HP:0003691, a Human Phenotype Ontology term): Abnormal protrusion of the scapula away from the surface of the back. Evidence: IEA. (OMIM:609285)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/7. (PMID:23378224)
- Generalized hypotonia (HP:0001290, a Human Phenotype Ontology term): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:609285)
- Fiber type grouping (HP:0033685, a Human Phenotype Ontology term): An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type. Evidence: PCS. Frequency: 1/6. (PMID:23378224)
- Limb muscle weakness (HP:0003690, a Human Phenotype Ontology term): Reduced strength and weakness of the muscles of the arms and legs. Evidence: PCS. (PMID:11738357)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 1/1. (PMID:23378224)
- Gowers sign (HP:0003391, a Human Phenotype Ontology term): 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:609285)
- Angulated muscle fibers (HP:0034045, a Human Phenotype Ontology term): Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip. Evidence: PCS. Frequency: 2/7. (PMID:23378224)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/7. (PMID:23378224)
- Lower limb muscle weakness (HP:0007340, a Human Phenotype Ontology term): Weakness of the muscles of the legs. Evidence: PCS. Frequency: 2/2. (PMID:23378224)
- Facial diplegia (HP:0001349, a Human Phenotype Ontology term): Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). Evidence: IEA. (OMIM:609285)
- Feeding difficulties in infancy (HP:0008872, a Human Phenotype Ontology term): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: PCS. Frequency: 1/2. (PMID:11738357)
- 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: IEA. (OMIM:609285)
- High palate (HP:0000218, a Human Phenotype Ontology term): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: IEA. (OMIM:609285)
- Type 1 muscle fiber predominance (HP:0003803, a Human Phenotype Ontology term): An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). Evidence: PCS. Frequency: 1/7. (PMID:23378224)
- Proximal muscle weakness (HP:0003701, a Human Phenotype Ontology term): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 4/8. (PMID:23378224)
- Pes planus (HP:0001763, a Human Phenotype Ontology term): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: PCS. Frequency: 1/8. (PMID:23378224)
- Hyporeflexia (HP:0001265, a Human Phenotype Ontology term): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:609285)
- Kyphoscoliosis (HP:0002751, a Human Phenotype Ontology term): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: IEA. (OMIM:609285)
- Myopathic facies (HP:0002058, a Human Phenotype Ontology term): A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. Evidence: IEA. Frequency: 2/3. (OMIM:609285)
- Skeletal muscle atrophy (HP:0003202, a Human Phenotype Ontology term): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. (OMIM:609285)
- Centrally nucleated skeletal muscle fibers (HP:0003687, a Human Phenotype Ontology term): 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: PCS. Frequency: 4/7. (PMID:23378224)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: PCS. Frequency: 1/8. (PMID:23378224)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/2. (PMID:11738357)
- Myofiber disarray (HP:0031318, a Human Phenotype Ontology term): A nonparallel arrangement of cardiac myocytes. Evidence: PCS. Frequency: 2/7. (PMID:23378224)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 2/8. (PMID:23378224)
- Delayed ability to walk (HP:0031936, a Human Phenotype Ontology term): A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. Evidence: PCS. Frequency: 1/7. (PMID:23378224)
- Gait disturbance (HP:0001288, a Human Phenotype Ontology term): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 1/1. Onset: Juvenile onset (HP:0003621, a Human Phenotype Ontology term). (PMID:11738357)
- Gait disturbance (HP:0001288, a Human Phenotype Ontology term): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 1/1. (PMID:23378224)
- Gait disturbance (HP:0001288, a Human Phenotype Ontology term): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 2/2. (PMID:23378224)
- Reduced vital capacity (HP:0002792, a Human Phenotype Ontology term): An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. Evidence: IEA. (OMIM:609285)
- Fatigue (HP:0012378, a Human Phenotype Ontology term): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. Frequency: 1/8. (PMID:23378224)
- Psychosis (HP:0000709, a Human Phenotype Ontology term): A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. Evidence: PCS. Frequency: 3/8. (PMID:23378224)
- Joint contracture (HP:0034392, a Human Phenotype Ontology term): A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part. Evidence: PCS. Frequency: 8/8. (PMID:23378224)
- Schizophrenia (HP:0100753, a Human Phenotype Ontology term): A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences. Evidence: PCS. Frequency: 2/8. (PMID:23378224)
- Central core regions in muscle fibers (HP:0030230, a Human Phenotype Ontology term): The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric. Evidence: PCS. Frequency: 3/7. (PMID:23378224)
- Exercise-induced myalgia (HP:0003738, a Human Phenotype Ontology term): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: PCS. Frequency: 2/8. (PMID:23378224)
- Falls (HP:0002527, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/8. (PMID:23378224)
- Pectus carinatum (HP:0000768, a Human Phenotype Ontology term): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: PCS. Frequency: 2/8. (PMID:23378224)
- Tip-toe gait (HP:0030051, a Human Phenotype Ontology term): An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. Evidence: PCS. Frequency: 1/8. (PMID:23378224)
- Thoracic kyphosis (HP:0002942, a Human Phenotype Ontology term): Over curvature of the thoracic region, leading to a round back or if sever to a hump. Evidence: PCS. Frequency: 1/8. (PMID:23378224)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:11738357)
- Nemaline bodies (HP:0003798, a Human Phenotype Ontology term): Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. Evidence: PCS. Frequency: 8/9. (PMID:11738357;PMID:23378224)
- Neck muscle weakness (HP:0000467, a Human Phenotype Ontology term): Decreased strength of the neck musculature. Evidence: PCS. Frequency: 3/3. (PMID:11738357)