Maart 2012
3
Inhoudsopgave
1
Introductie............................................................................................................................................4
1.1
Zorgpad...............................................................................................................................4
1.2
Samenwerking ....................................................................................................................4
1.3
Patiëntenvereniging............................................................................................................5
1.4
Leeswijzer ...........................................................................................................................5
2
Congenitale Defecten in de Glycosylering - PMM 2 (CDG-1a) .............................................................6
2.1
Presentatie .........................................................................................................................7
2.2
Diagnose .............................................................................................................................9
2.3
Behandeling ......................................................................................................................10
3
Begeleiding – Kinderen...................................................................................................................... 12
3.1
Patiënt en/of ouders.........................................................................................................13
3.2
Casemanager ....................................................................................................................13
3.3
Kinderarts metabole ziekten .............................................................................................13
3.4
Vaste medebehandelaren: diëtist .....................................................................................19
3.5
Vaste medebehandelaren: (kinder)fysiotherapeut ...........................................................20
3.6
Vaste medebehandelaren: logopedist ..............................................................................20
3.7
Vaste medebehandelaren: (kinder)psycholoog.................................................................20
3.8
Vaste medebehandelaren: (kinder)neuroloog ..................................................................20
3.9
Vaste medebehandelaren: (kinder)cardioloog..................................................................21
3.10
Vaste medebehandelaren: oogarts ...................................................................................21
3.11
Vaste medebehandelaren: revalidatieteam ......................................................................21
3.12
Overige betrokken zorgverleners......................................................................................22
3.13
Overige aandachtpunten ..................................................................................................23
4
Begeleiding – Volwassenen............................................................................................................... 24
4.1
Patiënt ..............................................................................................................................25
4.2
Casemanager ....................................................................................................................25
4.3
Internist metabole ziekten................................................................................................25
4.4
Vaste medebehandelaren: neuroloog...............................................................................30
4.5
Vaste medebehandelaren: fysiotherapeut........................................................................31
4.6
Vaste medebehandelaren: psycholoog .............................................................................31
4.7
Vaste medebehandelaren: logopedist ..............................................................................31
4.8
Vaste medebehandelaren: diëtist .....................................................................................31
4.9
Vaste medebehandelaren: cardioloog ..............................................................................31
4.10
Vaste medebehandelaren: oogarts ...................................................................................32
4.11
Vaste medebehandelaren: revalidatieteam ......................................................................32
4.12
Overige betrokken zorgverleners......................................................................................32
4.13
Overige aandachtspunten.................................................................................................33
5
Kwaliteitsindicatoren ........................................................................................................................ 34
6
Consensus zorgpad ‘PMM 2 - CDG (CDG 1a)’.................................................................................... 35
7
Disclaimer.......................................................................................................................................... 35