Phenotypes associated with the disease Facial onset sensory and motor neuronopathy (ORPHA:85162):
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85162)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85162)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85162)
- Fasciculations (HP:0002380): 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85162)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85162)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85162)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85162)