Phenotypes associated with the disease congenital myasthenic syndrome 15 (OMIM:616227):
- Increased jitter at single fiber EMG (HP:0030205): The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). Evidence: PCS. Frequency: 4/4. (PMID:23404334)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. (PMID:23404334)
- Fatigable weakness (HP:0003473): A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: PCS. Frequency: 2/2. (PMID:23404334)
- Multiple joint contractures (HP:0002828). Evidence: PCS. Frequency: 6/7. (PMID:23404334)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 1/7. (PMID:23404334)
- 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:23404334)
- Frequent falls (HP:0002359). Evidence: PCS. (PMID:23404334)
- Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuromuscular junction acetylcholine receptors. Evidence: PCS. Frequency: 0/2. (PMID:23404334)
- 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:23404334)
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403): A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation. Evidence: PCS. Frequency: 5/5. (PMID:23404334)