Please enable JavaScript.
Coggle requires JavaScript to display documents.
Dystrophica
myotonica (Complications (Cataracts, T2DM, Cardiovascular
…
Dystrophica
myotonica
-
Diagnosis
Examination
-
-
Neonatal
Hypotonic baby, respiratory difficulties,
feeding difficulty
-
Investigations
-
Bloods
FBC, U+E, LFT,
glucose (T2DM), lipids
Genetic testing (DM)
History
-
DH
Current meds, allergies
PC/HPC
Distal muscle weakness, poor feeding,
respiratory problems, learning difficulties
-
SH
Living arrangements, occupation,
smoking, alcohol, social support
Management
Conservative
Information, advice, support
Genetic counselling for families
Differentials
Congenital/genetic
Muscular dystrophy (DMD, BMD)
-
-
-
-
-
Pathophysiology
Defect
AD nucleotide triplet repeat expansion (CTG)
affecting the DMPK gene
Genetic anticipation through generations
Mechanism
Cl- channelopathy, resulting in disturbance and degeneration of muscle fibres
Clinical
presentation
Distal weakness
Hand/foot drop
Facial weakness (myotonic faces)
Feeding difficulties in neonates
-
-
-