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Neuropediatrics 2019; 50(01): 022-030
DOI: 10.1055/s-0038-1669786
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients

Amel Ben Chehida
1   Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia
2   Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
,
Sana Ben Messaoud
1   Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia
2   Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
,
Rim Ben Abdelaziz
1   Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia
2   Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
,
Nadia Ben Ali
3   Department of Neurology, Charles Nicoles Hospital, Tunis, Tunisia
,
Hela Boudabous
1   Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia
2   Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
,
Ines Ben Abdelaziz
4   Department of Neurology, National Institute of Neurology Mongi Ben Hamida, Tunis, Tunisia
,
Zeineb Ben Ameur
1   Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia
2   Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
,
Yosra Sassi
1   Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia
2   Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
,
Neziha Kaabachi
5   Department of Biochemistry, La Rabta Hospital, Tunis, Tunisia
,
Sonia Abdelhak
6   Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institute Pasteur of Tunis, University of Tunis, Tunis, Tunisia
,
Mohamed Slim Abdelmoula
1   Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia
2   Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
,
Mohamed Fradj
3   Department of Neurology, Charles Nicoles Hospital, Tunis, Tunisia
,
Hatem Azzouz
1   Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia
2   Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
,
Neji Tebib
1   Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia
2   Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
› Author Affiliations
Further Information

Publication History

10 April 2018

27 July 2018

Publication Date:
11 October 2018 (online)

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Abstract

Background Our aim was to describe the natural history of neuromuscular involvement (NMI) in glycogen storage disease type III (GSDIII).

Methods We conducted a longitudinal study of 50 Tunisian patients, 9.87 years old in average.

Results NMI was diagnosed at an average age of 2.66 years and was clinically overt in 85% of patients. Patients with clinical features were older (p = 0.001). Complaints were dominated by exercise intolerance (80%), noticed at 5.33 years in average. Physical signs, observed at 6.75 years in average, were dominated by muscle weakness (62%). Functional impairment was observed in 64% of patients, without any link with age (p = 0.255). Among 33 patients, 7 improved. Creatine kinase (CK) and aspartate aminotransferase (AST) levels were higher with age.

Electrophysiological abnormalities, diagnosed in average at 6.5 years, were more frequent after the first decade (p = 0.0005). Myogenic pattern was predominant (42%). Nerve conduction velocities were slow in two patients. Lower caloric intake was associated with more frequent clinical and electrophysiological features. Higher protein intake was related to fewer complaints and physical anomalies.

Conclusion Neuromuscular investigation is warranted even in asymptomatic patients, as early as the diagnosis of GSDIII is suspected. Muscle involvement can be disabling even in children. Favorable evolution is possible in case of optimal diet.

Keywords

neuropathy - myopathy - electromyography - nerve conduction study - debranching enzyme deficiency

Supplementary Material

 

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