Clinical Varieties of Neuromuscular Disease in Debrancher Deficiency

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

“…We described the phenotype of NMI in a large cohort of 50 patients with GSDIII followed in Tunisia. Albeit it is used to be considered as a complication of adulthood, 2,3,5,7,8,[16][17][18][19] we pointed out the early onset of NM symptoms, as highlighted recently in animal models [20][21][22] and muscle imaging studies. 23,24 In the contrary, median age of NMI was around 10 years (0.34-56.1 years) in the international study on GSDIII (ISGSDIII).…”

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

“…We described the phenotype of NMI in a large cohort of 50 patients with GSDIII followed in Tunisia. Albeit it is used to be considered as a complication of adulthood, 2,3,5,7,8,[16][17][18][19] we pointed out the early onset of NM symptoms, as highlighted recently in animal models [20][21][22] and muscle imaging studies. 23,24 In the contrary, median age of NMI was around 10 years (0.34-56.1 years) in the international study on GSDIII (ISGSDIII).…”

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III

“…1A) but also in the lysosomes (Fig. 1B) [11]. This suggests that the highly accumulated cytoplasmic glycogen is actively shuffled into the lysosomes and the "normal GAA" may not be sufficient to clear the lysosomal glycogen loads in GSD III.…”

Comparison of gluteus medius muscle activity in Haflinger and Noriker horses with polysaccharide storage myopathy

“…reduced frequency of motor unit potentials) corresponds well with the decreased muscle activity density, also reflecting reduced muscle activity frequency, found in the horses with GYS1 mutation in the present study. In the aforementioned study, there were also abundant fibrillations in every muscle tested, and the number of motor unit potentials was decreased (Cornelio et al, 1984 ).…”

“…In humans, a glycogen debrancher enzyme deficiency disease exists (Cori disease, also known as glycogen storage disease type III). Cornelio et al ( 1984 ) showed in two patients with clinically apparent debrancher deficiency that the EMG profile included short duration and low amplitude motor unit potentials in their proximal muscles and that the motor unit potentials were increased in duration and amplitude in the first dorsal interosseus of the hands and in the tibialis anterior. Such an increased duration of motor unit potentials (i.e.…”

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

“…We described the phenotype of NMI in a large cohort of 50 patients with GSDIII followed in Tunisia. Albeit it is used to be considered as a complication of adulthood, 2,3,5,7,8,[16][17][18][19] we pointed out the early onset of NM symptoms, as highlighted recently in animal models [20][21][22] and muscle imaging studies. 23,24 In the contrary, median age of NMI was around 10 years (0.34-56.1 years) in the international study on GSDIII (ISGSDIII).…”

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III

“…1A) but also in the lysosomes (Fig. 1B) [11]. This suggests that the highly accumulated cytoplasmic glycogen is actively shuffled into the lysosomes and the "normal GAA" may not be sufficient to clear the lysosomal glycogen loads in GSD III.…”

Comparison of gluteus medius muscle activity in Haflinger and Noriker horses with polysaccharide storage myopathy

“…reduced frequency of motor unit potentials) corresponds well with the decreased muscle activity density, also reflecting reduced muscle activity frequency, found in the horses with GYS1 mutation in the present study. In the aforementioned study, there were also abundant fibrillations in every muscle tested, and the number of motor unit potentials was decreased (Cornelio et al, 1984 ).…”

“…In humans, a glycogen debrancher enzyme deficiency disease exists (Cori disease, also known as glycogen storage disease type III). Cornelio et al ( 1984 ) showed in two patients with clinically apparent debrancher deficiency that the EMG profile included short duration and low amplitude motor unit potentials in their proximal muscles and that the motor unit potentials were increased in duration and amplitude in the first dorsal interosseus of the hands and in the tibialis anterior. Such an increased duration of motor unit potentials (i.e.…”

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

“…We described the phenotype of NMI in a large cohort of 50 patients with GSDIII followed in Tunisia. Albeit it is used to be considered as a complication of adulthood, 2,3,5,7,8,[16][17][18][19] we pointed out the early onset of NM symptoms, as highlighted recently in animal models [20][21][22] and muscle imaging studies. 23,24 In the contrary, median age of NMI was around 10 years (0.34-56.1 years) in the international study on GSDIII (ISGSDIII).…”

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III

“…1A) but also in the lysosomes (Fig. 1B) [11]. This suggests that the highly accumulated cytoplasmic glycogen is actively shuffled into the lysosomes and the "normal GAA" may not be sufficient to clear the lysosomal glycogen loads in GSD III.…”

Comparison of gluteus medius muscle activity in Haflinger and Noriker horses with polysaccharide storage myopathy

“…reduced frequency of motor unit potentials) corresponds well with the decreased muscle activity density, also reflecting reduced muscle activity frequency, found in the horses with GYS1 mutation in the present study. In the aforementioned study, there were also abundant fibrillations in every muscle tested, and the number of motor unit potentials was decreased (Cornelio et al, 1984 ).…”

“…In humans, a glycogen debrancher enzyme deficiency disease exists (Cori disease, also known as glycogen storage disease type III). Cornelio et al ( 1984 ) showed in two patients with clinically apparent debrancher deficiency that the EMG profile included short duration and low amplitude motor unit potentials in their proximal muscles and that the motor unit potentials were increased in duration and amplitude in the first dorsal interosseus of the hands and in the tibialis anterior. Such an increased duration of motor unit potentials (i.e.…”