Phenotypes associated with the disease Paramyotonia congenita of Von Eulenburg (ORPHA:684):
- Neonatal hypotonia (HP:0001319): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- Myotonia (HP:0002486): An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- Muscle stiffness (HP:0003552): A condition in which muscles cannot be moved quickly without accompanying pain or spasm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- Neonatal inspiratory stridor (HP:0004875). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- Percussion myotonia (HP:0010548): A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- Paradoxical myotonia (HP:0011809): A type of myotonia that worsens with repeated muscle contractions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- Facial muscle hypertrophy (HP:0012892): Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- Handgrip myotonia (HP:0012899): Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- Myotonia of the face (HP:0012900): Slowed relaxation of muscles in the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- Myotonia of the jaw (HP:0012901): Slowed relaxation of muscles in the jaw. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- Myotonia of the upper limb (HP:0012903): Slowed relaxation of muscles in the arm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:684)
- Cold paresis (HP:0031372): Increased muscle weakness upon exposure to cold temperatures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:684)
- EMG: myopathic abnormalities (HP:0003458): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:684)
- Periodic hypokalemic paresis (HP:0008153): Episodes of muscle weakness associated with reduced levels of potassium in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:684)
- Abnormal circulating potassium concentration (HP:0011042): Any deviation from the normal concentration of potassium(1+) in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:684)