Metabolic movement disorders comprehensive panel

Metabolic movement disorders comprehensive panel

[32 genes]

TOURNAROUND TIME: 6 WEEKS

ARSA ATP7B CLN3 CLN5 CLN6 CLN8 CP CTSD CTSF CYP27A1
DNAJC5 FOLR1 GALC GBA GCDH GLB1 GM2A GRN HEXA HEXB
L2HGDH MFSD8 NPC1 NPC2 PPT1 PTS QDPR SLC19A3 SLC25A19 SMPD1
TPK1 TPP1
ARSA ATP7B CLN3 CLN5
CLN6 CLN8 CP CTSD
CTSF CYP27A1 DNAJC5 FOLR1
GALC GBA GCDH GLB1
GM2A GRN HEXA HEXB
L2HGDH MFSD8 NPC1 NPC2
PPT1 PTS QDPR SLC19A3
SLC25A19 SMPD1 TPK1 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).

  • One of the metabolic disease groups with the highest overall prevalence of movement disorders are mitochondrial diseases. Suspicion of any of these diseases should lead to the study of the mitochondrial genome or of nuclear genes involved in mitochondrial metabolism (see specific panel).
  • On the other hand, we have selected some phenotypes that should be included in the differential clinical diagnosis due to the occurrence of a movement disorder as the first symptom:
RELATED PHENOTYPES
Neuronal ceroid lipofuscinosis (NCL) CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, MFSD8, PPT1, TPP1
Thiamine- and biotin-responsive encephalopathies SLC19A3, SLC25A19, TPK1
Wilson’s disease ATP7B
Aceruloplasminemia / systemic hemosiderosis CP
Niemann-Pick disease type C and types A & B NPC1, NPC2/SMPD1
Cerebral folate transport deficiency FOLR1
Tetrahydrobiopterin deficiency / Hyperphenylalaninemia PTS, QDPR
Glutaric aciduria type 1 and L-2-hydroxyglutaric aciduria GCDH / L2HGDH
Gangliosidosis GLB1, GM2A, HEXA, HEXB
Gaucher disease GBA
Metachromatic leukodystrophy ARSA
Krabbe disease GALC
Cerebrotendinous xanthomatosis CYP27A1
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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