Metachromatic leukodystrophy
Contents
Summary
The example disease causes the example syndrome.
Metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves, muscles, other organs, and behavior. It slowly gets worse over time.
Phenotype
The disease affects the muscle tone, leading to abnormally high muscle tone as well as decreased muscle tone. This in turn leads to walking and feeding difficulties, frequent falls, incontinence, speech difficulties with slurring, etc. It can also effect nerve function and lead to decreased mental function, personality changes, etc. (see PubMed Health.
Cross-references
See also description of this disease in
- specific link to Wikipedia
- specific link to HGMD
- specific link to OMIM
... (see databases in "resources")
Biochemical disease mechanism
The example protein is involved in the example pathway...
Ideally, include a graphical pathway representation like this one:
(see above: own words, no plagiarism)
Cross-references
- link to KEGG
- link to MetaCyc
... see databases in "resources"
