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GLUT1 deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Dystonic tremor has been reported [15] in GLUT1 deficiency. The tremor involves the limbs and the voice, and it may be the only manifestations of disease. Generalized action tremor was typified by tremor of the writing hand, which could be controlled by holding it with the left hand. A tremor made carrying a glass of water an adventure. The voice was described as jerky. This patient also developed paroxysmal exercise-induced dystonia. Another patient with tremor and a jerky voice had paroxysmal exertional dystonia. A sitting position could induce a right-foot dystonia and lower limb clonic tremor, while vocal tremor could be accentuated by producing a sustained sound. EEG revealed slow-wave discharges.
PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype–phenotype correlation reanalysis in literatures
Published in International Journal of Neuroscience, 2018
Guohua Zhao, Xiaomin Liu, Qiong Zhang, Kang Wang
Paroxysmal dyskinesia consists of a group of inheritable episodic disorders characterized by recurrent attacks of involuntary movements and is classified by different triggers as either paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exercise-induced dystonia or paroxysmal hypnogenic dyskinesia (PHD). The symptoms of PKD occur during childhood or early adulthood with manifestations of dystonic postures, chorea or athetosis. Most PKD cases were inherited as an autosomal dominant pattern, however, there were some sporadic PKD cases [1]. Benign febrile infantile epilepsy (BFIE) is characterized by non-febrile convulsion in early months of life and normal psychomotor development in adulthood [2]. Infantile convulsions and choreoathetosis (ICCA) is also termed as PKD combined with infantile seizure (PKD/IC) to label patients who present with both BFIE and PKD [3]. During the last decade, these diseases have been associated with mutations of the proline-rich transmembrane protein 2 (PRRT2), a mutation that is also associated with seizures, migraines, intelligence disability and neurodevelopmental disorders [4–90].
An overview of the pharmacotherapeutics for dystonia: advances over the past decade
Published in Expert Opinion on Pharmacotherapy, 2022
O. Abu-hadid, J. Jimenez-Shahed
Thiamine is a co-factor used by enzymes in various metabolic processes. Such enzymes include pyruvate dehydrogenase. A case report with an associated review shows a patient with a pyruvate dehydrogenase defect that developed paroxysmal exercise induced dystonia which persistently responded to thiamine supplementation [133]. Furthermore, a case series shows variable improvement in patients with DYT16 in response to thiamine supplementation with no clear explanation [134].