Amel Ben Chehida1,2, Sana Ben Messaoud1,2, Rim Ben Abdelaziz1,2, Nadia Ben Ali3, Hela Boudabous1,2, Ines Ben Abdelaziz4, Zeineb Ben Ameur1,2, Yosra Sassi1,2, Neziha Kaabachi5, Sonia Abdelhak6, Mohamed Slim Abdelmoula1,2, Mohamed Fradj3, Hatem Azzouz1,2, Neji Tebib1,2. 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. 3. Department of Neurology, Charles Nicoles Hospital, Tunis, Tunisia. 4. Department of Neurology, National Institute of Neurology Mongi Ben Hamida, Tunis, Tunisia. 5. Department of Biochemistry, La Rabta Hospital, Tunis, Tunisia. 6. Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institute Pasteur of Tunis, University 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. Georg Thieme Verlag KG Stuttgart · New York.
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. Georg Thieme Verlag KG Stuttgart · New York.