Myotonic disorders

v.djabatey
Mind Map by , created almost 6 years ago

paeds-neurology Mind Map on Myotonic disorders, created by v.djabatey on 01/12/2014.

29
0
0
Tags
v.djabatey
Created by v.djabatey almost 6 years ago
Epilepsies of childhood
v.djabatey
Secondary headaches- raised ICP & space-occupying lesions
v.djabatey
Primary headaches
v.djabatey
Circle Theorems
I Turner
1PR101 2.test - Část 9.
Nikola Truong
Peripheral motor disorders- neuromuscular disorders
v.djabatey
Ataxia
v.djabatey
Epilepsies of childhood-pt2
v.djabatey
Classification of headache disorders
v.djabatey
Peripheral neuropathies
v.djabatey
Myotonic disorders
1 myotonia= delayed relaxation after sustained mm contraction
1.1 IDed clinically and on EMG
2 dystrophia myotonica
2.1 dominantly inherited
2.2 caused by nucleotide triplet expansion
2.2.1 so there can be anticipation through the generations
2.2.1.1 esp when maternally transmitted
2.3 presentation
2.3.1 newborns
2.3.1.1 hypotonia
2.3.1.2 resp & feeding difficulties
2.3.1.2.1 due to mm weakness
2.3.1.3 good to examine mum for myotonia
2.3.1.3.1 manifestation
2.3.1.3.1.1 slow release of handshake
2.3.1.3.1.2 difficulty releasing tightly clasped fist
2.3.2 older kids
2.3.2.1 myopathic facies
2.3.2.2 LD
2.3.2.3 myotonia
2.4 diagnosis
2.4.1 imp to be sensitive while giving diag in the neonate
2.5 adults
2.5.1 cataracts
2.5.2 males
2.5.2.1 baldness
2.5.2.2 testicular atrophy
2.6 death usually due to cardiomyopathy

Media attachments