Phenotypes associated with the disease neuronopathy, distal hereditary motor, autosomal recessive 9 (OMIM:620402, an entry in Online Mendelian Inheritance in Man):
- 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: 6/6. (PMID:36454683;PMID:37077559)
- Distal upper limb muscle weakness (HP:0008959, a Human Phenotype Ontology term): Reduced strength of the distal musculature of the arms. Evidence: PCS. Frequency: 6/6. (PMID:36454683;PMID:37077559)
- 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: 3/3. (PMID:36454683)
- Pes cavus (HP:0001761, a Human Phenotype Ontology term): 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: PCS. Frequency: 3/3. (PMID:36454683)
- Babinski sign (HP:0003487, a Human Phenotype Ontology term): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: PCS. Frequency: 1/3. (PMID:36454683)
- Fasciculations (HP:0002380, a Human Phenotype Ontology term): Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. Evidence: PCS. Frequency: 1/2. (PMID:36454683)
- Hoffmann sign (HP:0031993, a Human Phenotype Ontology term): A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. Evidence: PCS. Frequency: 1/3. (PMID:36454683)
- 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: PCS. Frequency: 2/3. (PMID:36454683)
- Disturbed sensory perception (HP:0010524, a Human Phenotype Ontology term): Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences. Evidence: PCS. Frequency: 0/6. (PMID:36454683;PMID:37077559)
- Distal lower limb muscle weakness (HP:0009053, a Human Phenotype Ontology term): Reduced strength of the distal musculature of the legs. Evidence: PCS. Frequency: 6/6. (PMID:36454683;PMID:37077559)
- Dementia (HP:0000726, a Human Phenotype Ontology term): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: PCS. Frequency: 0/3. (PMID:36454683)
- Lower limb amyotrophy (HP:0007210, a Human Phenotype Ontology term): Muscular atrophy affecting the lower limb. Evidence: PCS. Frequency: 5/6. (PMID:36454683;PMID:37077559)
- Proximal lower limb muscle weakness (HP:0008994, a Human Phenotype Ontology term): A lack of strength of the proximal muscles of the legs. Evidence: PCS. Frequency: 1/6. (PMID:36454683;PMID:37077559)
- Autosomal recessive inheritance (HP:0000007, 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 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:36454683)
- Proximal upper limb muscle weakness (HP:0008997, a Human Phenotype Ontology term): A lack of strength of the proximal muscles of the arms. Evidence: PCS. Frequency: 0/6. (PMID:36454683;PMID:37077559)
- Increased variability in muscle fiber diameter (HP:0003557, a Human Phenotype Ontology term): An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. Evidence: PCS. Frequency: 1/1. (PMID:37077559)
- Hyperreflexia (HP:0001347, a Human Phenotype Ontology term): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 1/3. (PMID:36454683)