Carried by: BRAINTEAM
References:
Clinician(s): Odile BOESPFLUG-TANGUY
Biologist(s): Séverine DRUNAT
Presentation
Leukodystrophies are a highly heterogeneous group of genetic diseases that affect the white matter of the central nervous system.
Their clinical recognition is therefore based on the detection of abnormalities in the white matter signal on magnetic resonance imaging (MRI) for which an acquired cause has been ruled out.
The pre-indication applies to any type of leukoencephalopathy for which a genetic cause is suspected: whether it begins in childhood or adulthood, whether it presents as motor or cognitive, and whether it progresses rapidly or slowly.
Criteria before considering a discussion in MDM-FMG
- Family history: family tree
- History of the disease:
- Pregnancy
- Psychomotor development
- Progression of the disease
- Clinical examination
- Neurological examination
- Dysmorphia
- Visceral involvement
- Ophthalmological and skin examinations
- Neurophysiological investigations
- Evoked potentials, EMG with VCN, EEG
- Neuro-radiological examinations
- MRI
- CT scan
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact