Channelopathies Flashcards
1
Q
What is the most common channelopathy?
A
Dystrophia myotonica
2
Q
What channels are affected by dystrophia myotonica?
A
Chlorine
3
Q
What causes channelopathies?
A
Myotonic disorders
4
Q
When do channelopathies present?
A
Early adulthood
5
Q
What symptoms does a channelopathy present with?
A
Weakness in hands legs and SCM
6
Q
Signs of a channelopathy?
A
Long haggard appearence from muscle wasting in the face
7
Q
What is the most common channelopathy affecting sodium channels?
A
Paramyotonia congenita
- A mutation in the gene that codes for sodium channels on muscle cells
- Causing them to seize up (myotonia)
8
Q
What tests should be done?
A
Muscle biopsy
- Shows chains of central nuclei in fibres
- However very painful
Diagnosis is made clinically
9
Q
Pharma treatment?
A
Phenytoin
- Blocks voltage gated sodium channels causing muscles to relax
10
Q
What are the complications of channelopathies?
A
Cataracts
Frontal baldness
Gonadal atrophy
Cardiomyopathy
