Phenotypes associated with the disease neuronopathy, distal hereditary motor, type 7A (OMIM:158580):
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:158580)
- 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: 2/2. (PMID:23141292)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:23141292)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. (OMIM:158580)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: TAS. (OMIM:158580)
- Distal amyotrophy (HP:0003693): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: TAS. (OMIM:158580)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: TAS. (OMIM:158580)
- Abnormal motor nerve conduction velocity (HP:0040131). Evidence: PCS. Frequency: 0/14. (PMID:23141292)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. (OMIM:158580)
- Vocal cord paralysis (HP:0001605): A loss of the ability to move the vocal folds. Evidence: TAS. (OMIM:158580)
- Vocal cord paresis (HP:0001604): Decreased strength of the vocal folds. Evidence: IEA. (OMIM:158580)
- Autosomal dominant inheritance (HP:0000006): 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:23141292)
- Slowly progressive (HP:0003677): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: IEA. (OMIM:158580)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:158580)
- 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: 0/2. (PMID:23141292)