- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90117)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90117)
- Upper limb muscle weakness (HP:0003484): Weakness of the muscles of the arms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90117)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90117)
- Intermittent painful muscle spasms (HP:0011964): History of repeated intermittent involuntary muscle contractions that were painful. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90117)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90117)
- Abnormal peripheral action potential amplitude (HP:0030179): An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90117)
- Fatiguable weakness of proximal limb muscles (HP:0030200): A type of weakness of a skeletal muscle of proximal part of a limb 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90117)
- Abnormality of the urinary system (HP:0000079): An abnormality of the urinary system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90117)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90117)
- Bulbar signs (HP:0002483). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90117)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90117)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90117)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90117)
- Difficulty standing (HP:0003698). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90117)
- Limb fasciculations (HP:0007289): Fasciculations affecting the musculature of the arms and legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90117)
- Muscle fibrillation (HP:0010546): Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascertained by electromyography (EMG). If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90117)
- EMG: positive sharp waves (HP:0030007): These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90117)
- Abnormal cranial nerve physiology (HP:0031910): A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90117)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90117)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90117)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90117)
- Respiratory failure requiring assisted ventilation (HP:0004887): A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90117)
- Abnormal seventh cranial physiology (HP:0010827): Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90117)
- Abnormal glucose homeostasis (HP:0011014): Abnormality of glucose homeostasis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90117)
- Nasogastric tube feeding in infancy (HP:0011470): Feeding problem necessitating nasogastric tube feeding. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90117)
- Aspiration pneumonia (HP:0011951): Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90117)
- Lower cranial nerve dysfunction (HP:0410262): A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90117)
These phenotypes are associated with the disease Hereditary motor and sensory neuropathy, Okinawa type (ORPHA:90117).