- EMG: neuropathic changes (HP:0003445, a Human Phenotype Ontology term): The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). Evidence: PCS. Frequency: 2/2. (PMID:20142617)
- Hand muscle weakness (HP:0030237, a Human Phenotype Ontology term): Reduced strength of the musculature of the hand. Evidence: PCS. Frequency: 2/2. (PMID:20142617)
- 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. Frequency: 2/2. (PMID:20142617)
- 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. (PMID:20142617)
- Distal upper limb muscle weakness (HP:0008959, a Human Phenotype Ontology term): Reduced strength of the distal musculature of the arms. Evidence: PCS. Frequency: 2/2. (PMID:20142617)
- Easy fatigability (HP:0003388, a Human Phenotype Ontology term): Increased susceptibility to fatigue. Evidence: PCS. Frequency: 1/2. (PMID:20142617)
- Distal lower limb muscle weakness (HP:0009053, a Human Phenotype Ontology term): Reduced strength of the distal musculature of the legs. Evidence: PCS. Frequency: 2/2. (PMID:20142617)
- 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: 2/2. (PMID:20142617)
- Peripheral neuropathy (HP:0009830, a Human Phenotype Ontology term): 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: PCS. (PMID:20142617)
- Distal upper limb amyotrophy (HP:0007149, a Human Phenotype Ontology term): Muscular atrophy of distal arm muscles. Evidence: PCS. Frequency: 1/2. (PMID:20142617)
- Intrinsic hand muscle atrophy (HP:0008954, a Human Phenotype Ontology term): Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. Evidence: PCS. Frequency: 1/2. (PMID:20142617)
- Absent Achilles reflex (HP:0003438, a Human Phenotype Ontology term): Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. Evidence: PCS. Frequency: 2/2. (PMID:20142617)
- 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:20142617)
- Slowly progressive (HP:0003677, a Human Phenotype Ontology term): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: PCS. (PMID:20142617)
- Absent patellar reflexes (HP:0006844, a Human Phenotype Ontology term): Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. Evidence: PCS. Frequency: 1/2. (PMID:20142617)
- Distal lower limb amyotrophy (HP:0008944, a Human Phenotype Ontology term): Muscular atrophy of distal leg muscles. Evidence: PCS. Frequency: 1/2. (PMID:20142617)
These phenotypes are associated with the disease neuronopathy, distal hereditary motor, type 2C (OMIM:613376, an entry in Online Mendelian Inheritance in Man).