Sunday, 16 February 2014

Neuronal Ceroid Lipofuscinoses

The neuronal ceroid lipofuscinoses

This disease is also recognized as Batten disease, are a cluster of neurodegenerative illnesses. They are measured the most common of the neurogenetic storage diseases.

Symptoms
Underdeveloped head growth, Hypotonia, Hyper excitability, Cognitive dysfunction, Visual failure, Ataxia, Extrapyramidal movements, Spasticity, Myoclonus, Increased risk of hypothermia and bradycardia with anesthesia.


Diagnosis
Tissue samplingor Skin. The doctor can inspect a small piece of tissue under an electron microscope. Electroencephalogram or EEG, Electrical studies of the eyes, Brain scans, Enzyme assay.

Treatment

No exactcure is obtainable for neuronal ceroid lipofuscinoses (NCLs).Bone marrow transplantation has been strained in animal replicas as well as in a few infants, with unsatisfactory results.








No comments:

Post a Comment