Phenotypes associated with the disease Myotonia fluctuans (ORPHA:99734):
- Muscle stiffness (HP:0003552): A condition in which muscles cannot be moved quickly without accompanying pain or spasm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99734)
- EMG: myotonic discharges (HP:0100284): High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99734)
- Spasticity of facial muscles (HP:0002491): Spasticity of one or more muscles innervated by the facial nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99734)
- Exercise-induced muscle stiffness (HP:0008967): A type of muscle stiffness that occurs following physical exertion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99734)
- Myotonia of the lower limb (HP:0012902): Slowed relaxation of muscles in the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99734)
- Myotonia of the upper limb (HP:0012903): Slowed relaxation of muscles in the arm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99734)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99734)
- Diplopia (HP:0000651): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99734)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99734)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99734)
- Handgrip myotonia (HP:0012899): Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99734)
- Myotonia of the face (HP:0012900): Slowed relaxation of muscles in the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99734)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99734)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99734)
- Neonatal hypotonia (HP:0001319): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99734)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99734)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99734)
- Myotonia with warm-up phenomenon (HP:0003740): Myotonia that occurs after a period of rest and decreases with continuing exercise. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99734)
- Stridor (HP:0010307): Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99734)
- Laryngospasm (HP:0025425): A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99734)
- Choking episodes (HP:0030842): Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99734)
Not associated with this disease:
- Cold-sensitive myotonia (HP:0012904): An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold. Evidence: TAS. (ORPHA:99734)