Duchenne/Becker = veroorzaakt door mutaties in dystrofine gen.
spierdystrofie (DMD/BMD) - X-gebonden recessieve aandoening
Symptomen:
- Teken van Gowers
- Hyperlordose
- Zeer progressief
- Zwakbegaafd/cognitieve stoornis
Diagnostiek:
- Spierbiopt
Behandeling:
- Gentherapie
- Antisense oligonucleotide theorie
Familiaire
hypercholesterolemie
(FH)
Friedreichsche ataxie = progressieve ataxie met verlies van evenwicht, vibratie en positiezin.
- Veroorzaakt door GAA-repeat in FRDA-gen
Hereditaire motor sensore = stoornis in de vorming van myeline → PMP22 duplicaties
neuropathie (HMSN) type Symptomen:
1a - Zwakte teen en voet extensoren
- Zwakte hand
- Sensibele stoornissen
Diagnostiek:
- EMG → vertraagde geleidingstijden
- MLPA
Spinale musculaire atrofie = mutatie in survival of motor neuron (SMN).
type 1 (Ziekte van - Kinderen worden zelden ouder dan 2 jaar
Werdnig-Hoffmann) Symptomen:
- Spierzwakte in bovenarmen, bovenbenen, romp en ademhalingsspieren
Spinocerebellaire ataxie = autosomale dominante aandoening met cognitieve achteruitgang. Vaak
(SCA) veroorzaakt door trinucleotide repeat expansies.
Waardenburg syndroom
Ziekte van Huntington = een repeat ziekte
Kenmerken:
- Progressieve bewegingsstoornis
- Afname intellectuele functie
- 30-50 jaar
Overzicht NO - Sofia Rabbanizadah p.4
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller srbbnzdh. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $6.42. You're not tied to anything after your purchase.