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

Amel Ben Chehida; Sana Ben Messaoud; Rim Ben Abdelaziz; Nadia Ben Ali; Hela Boudabous; Ines Ben Abdelaziz; Zeineb Ben Ameur; Yosra Sassi; Neziha Kaabachi; Sonia Abdelhak; Mohamed Slim Abdelmoula; Mohamed Fradj; Hatem Azzouz; Neji Tebib

doi:10.1055/s-0038-1669786

Neuropediatrics, Table of Contents

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

Authors

Amel Ben Chehida

¹Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia

²Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
Sana Ben Messaoud

¹Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia

²Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
Rim Ben Abdelaziz

¹Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia

²Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
Nadia Ben Ali

³Department of Neurology, Charles Nicoles Hospital, Tunis, Tunisia
Hela Boudabous

¹Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia

²Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
Ines Ben Abdelaziz

⁴Department of Neurology, National Institute of Neurology Mongi Ben Hamida, Tunis, Tunisia
Zeineb Ben Ameur

¹Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia

²Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
Yosra Sassi

¹Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia

²Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
Neziha Kaabachi

⁵Department of Biochemistry, La Rabta Hospital, Tunis, Tunisia
Sonia Abdelhak

⁶Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institute Pasteur of Tunis, University of Tunis, Tunis, Tunisia
Mohamed Slim Abdelmoula

¹Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia

²Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
Mohamed Fradj

³Department of Neurology, Charles Nicoles Hospital, Tunis, Tunisia
Hatem Azzouz

¹Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia

²Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia
Neji Tebib

¹Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia

²Research Laboratory LR12SP02, Faculty of Medicine of Tunis, Tunis, Tunisia

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

Full Text

References

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