Neuronal ceroid lipofuscinosis specific panel

Neuronal ceroid lipofuscinosis specific panel

[11 genes]

TOURNAROUND TIME: 6 WEEKS

CLN3 CLN5 CLN6 CLN8
CTSD CTSF DNAJC5 GRN
MFSD8 PPT1 TPP1

Inherited metabolic disorders are a group of diseases that include defects affecting enzymes or proteins involved in cellular metabolism. Many of these diseases have neurological manifestations and can present with complex clinical pictures, combining cognitive and muscular symptoms, ataxia, epilepsy, or movement disorders.

Most commonly, movement disorders are not so much a predominant symptom as one of the manifestations of the disease. However, some metabolic disorders can start with some type of abnormal involuntary movement as their first symptom. Particularly,

dystonia, myoclonus, chorea, stereotypies, and parkinsonism may be a part of this spectrum of manifestations. The importance of these diseases lies in the fact that many of them can be effectively treated and that their early identification can prevent neurological damage.In a cohort of patients with movement disorders studied by Gouider-Khouja et al. (2010), up to 29% were found to have a movement disorder secondary to metabolic disease, with dystonia and myoclonus as the most frequent symptoms (54% and 28%, respectively).
REFERENCES
  1. Gouider-Khouja N, Kraoua I, Benrhouma H, Fraj N, Rouissi A. Movement disorders in neuro-metabolic diseases. Eur J Paediatr Neurol. 2010 Jul;14(4):304-7.

 

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