Paramyotonia Congenita

Paramyotonia Congenita (PMC)

Forest with light shining through the trees
Forest with light shining through the trees

Symptom List

Medical TermsOther Names
Learn More:
HPO ID
My Symptoms
30%-79% of people have these symptoms 
Cold paresis 0031372 ✔️
Cold-sensitive myotonia 0012904 ✔️
Dysphagia
Poor swallowing
more  ]
0002015 ✔️
Facial muscle hypertrophy
Increased size of facial muscles
more  ]
0012892  
Feeding difficulties
Feeding problems
more  ]
0011968  
Handgrip myotonia 0012899 ✔️
Muscle stiffness 0003552 ✔️
Myalgia
Muscle ache
more  ]
0003326 ✔️
Myotonia of the face 0012900  
Myotonia of the jaw 0012901  
Myotonia of the upper limb 0012903  
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319  
Neonatal inspiratory stridor 0004875  
Paradoxical myotonia 0011809 ✔️
Percussion myotonia 0010548  
5%-29% of people have these symptoms 
Abnormal blood potassium concentration 0011042 ✔️
EMG: myopathic abnormalities 0003458  
Periodic hypokalemic paresis 0008153 ✔️
Percent of people who have these symptoms is not available through HPO 
Autosomal dominant inheritance 0000006  
Infantile onset
Onset in first year of life
more  ]
0003593  
Inspiratory stridor 0005348  
Muscle weakness
Muscular weakness
0001324 ✔️
Skeletal muscle hypertrophy
Increased skeletal muscle cells
0003712  

Conclusion

I know people with PMC that also have been diagnosed concurrently with other forms of periodic paralysis like hypokalemic periodic paralysis, hyperkalemic periodic paralysis, and Andersen-Tawil syndrome. I meet much of the symptom profile and my experience closely matches those I know with PMC. I believe I have PMC, but not sure it is worth pursuing further at this point because I don't believe there is any further treatment I would be able to receive beyond my current periodic paralysis treatment.

Comments