Fatigue in Spinal Muscular Atrophy: a fundamental open issue
Acta Myol. 2024 Mar 31;43(1):1-7. doi: 10.36185/2532-1900-402. eCollection 2024.ABSTRACTHereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult lif...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Oscar Crisafulli Angela Berardinelli Giuseppe D'Antona Source Type: research
Assessment of the quality of life in patients with LGMD. The case of transportinopathy
Acta Myol. 2024 Feb 27;43(1):16-20. doi: 10.36185/2532-1900-397. eCollection 2024.ABSTRACTThe Quality of Life (QOL) is influenced by several disease-related factors, support, resources, expectations, and aspirations, within the disease-related concepts. The Individualized Neuromuscular Quality of Life (INQoL) is a validated muscle disease-specific measure of the QoL developed from the experiences of patients with muscle disease and can be used for people or large cohorts. This review of QoL in transportinopathy cases reports adjustments in an autosomal dominant (AD) LGMD, and a comparison is made with autosomal recessive (...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Corrado Angelini Alicia Aurora Rodr íguez Source Type: research
Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study
Acta Myol. 2024 Feb 21;43(1):8-15. doi: 10.36185/2532-1900-398. eCollection 2024.ABSTRACTDuchenne muscular dystrophy (DMD) is a devastating X-linked neuromuscular disorder caused by dystrophin gene deletions (75%), duplications (15-20%) and point mutations (5-10%), a small portion of which are nonsense mutations. Women carrying dystrophin gene mutations are commonly unaffected because the wild X allele may produce a sufficient amount of the dystrophin protein. However, approximately 8-10% of them may experience muscle symptoms and 50% of those over 40 years develop cardiomyopathy. The presence of symptoms defines the indiv...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Amir Dori Marianna Scutifero Luigia Passamano Dario Zoppi Lucia Ruggiero Antonio Trabacca Luisa Politano Source Type: research
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype
We report the first case of co-occurrence of type IXd and type II GSDs in a 53-year-old man with an atypical glycogen storage disease presentation consisting in myalgia in the lower limbs at both rest and after exercise and increased levels of transaminases from the age of 16. At the age of 43, the patient presented a steppage gait, inability to run and walk on his heels, hypotrophy of the pectoral and proximal muscles, reflexes not elicitable, and CK levels 3.6 times the upper reference limit. Next Generation Sequencing (NGS) identified one variant in the PHKA1 gene, c.1360A > G p.Ile454Val (exon 14) inherited by his m...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Esther Picillo Maria Elena Onore Luigia Passamano Vincenzo Nigro Luisa Politano Source Type: research
Fatigue in Spinal Muscular Atrophy: a fundamental open issue
Acta Myol. 2024 Mar 31;43(1):1-7. doi: 10.36185/2532-1900-402. eCollection 2024.ABSTRACTHereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult lif...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Oscar Crisafulli Angela Berardinelli Giuseppe D'Antona Source Type: research
Assessment of the quality of life in patients with LGMD. The case of transportinopathy
Acta Myol. 2024 Feb 27;43(1):16-20. doi: 10.36185/2532-1900-397. eCollection 2024.ABSTRACTThe Quality of Life (QOL) is influenced by several disease-related factors, support, resources, expectations, and aspirations, within the disease-related concepts. The Individualized Neuromuscular Quality of Life (INQoL) is a validated muscle disease-specific measure of the QoL developed from the experiences of patients with muscle disease and can be used for people or large cohorts. This review of QoL in transportinopathy cases reports adjustments in an autosomal dominant (AD) LGMD, and a comparison is made with autosomal recessive (...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Corrado Angelini Alicia Aurora Rodr íguez Source Type: research
Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study
Acta Myol. 2024 Feb 21;43(1):8-15. doi: 10.36185/2532-1900-398. eCollection 2024.ABSTRACTDuchenne muscular dystrophy (DMD) is a devastating X-linked neuromuscular disorder caused by dystrophin gene deletions (75%), duplications (15-20%) and point mutations (5-10%), a small portion of which are nonsense mutations. Women carrying dystrophin gene mutations are commonly unaffected because the wild X allele may produce a sufficient amount of the dystrophin protein. However, approximately 8-10% of them may experience muscle symptoms and 50% of those over 40 years develop cardiomyopathy. The presence of symptoms defines the indiv...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Amir Dori Marianna Scutifero Luigia Passamano Dario Zoppi Lucia Ruggiero Antonio Trabacca Luisa Politano Source Type: research
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype
We report the first case of co-occurrence of type IXd and type II GSDs in a 53-year-old man with an atypical glycogen storage disease presentation consisting in myalgia in the lower limbs at both rest and after exercise and increased levels of transaminases from the age of 16. At the age of 43, the patient presented a steppage gait, inability to run and walk on his heels, hypotrophy of the pectoral and proximal muscles, reflexes not elicitable, and CK levels 3.6 times the upper reference limit. Next Generation Sequencing (NGS) identified one variant in the PHKA1 gene, c.1360A > G p.Ile454Val (exon 14) inherited by his m...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Esther Picillo Maria Elena Onore Luigia Passamano Vincenzo Nigro Luisa Politano Source Type: research
Fatigue in Spinal Muscular Atrophy: a fundamental open issue
Acta Myol. 2024 Mar 31;43(1):1-7. doi: 10.36185/2532-1900-402. eCollection 2024.ABSTRACTHereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult lif...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Oscar Crisafulli Angela Berardinelli Giuseppe D'Antona Source Type: research
Assessment of the quality of life in patients with LGMD. The case of transportinopathy
Acta Myol. 2024 Feb 27;43(1):16-20. doi: 10.36185/2532-1900-397. eCollection 2024.ABSTRACTThe Quality of Life (QOL) is influenced by several disease-related factors, support, resources, expectations, and aspirations, within the disease-related concepts. The Individualized Neuromuscular Quality of Life (INQoL) is a validated muscle disease-specific measure of the QoL developed from the experiences of patients with muscle disease and can be used for people or large cohorts. This review of QoL in transportinopathy cases reports adjustments in an autosomal dominant (AD) LGMD, and a comparison is made with autosomal recessive (...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Corrado Angelini Alicia Aurora Rodr íguez Source Type: research
Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study
Acta Myol. 2024 Feb 21;43(1):8-15. doi: 10.36185/2532-1900-398. eCollection 2024.ABSTRACTDuchenne muscular dystrophy (DMD) is a devastating X-linked neuromuscular disorder caused by dystrophin gene deletions (75%), duplications (15-20%) and point mutations (5-10%), a small portion of which are nonsense mutations. Women carrying dystrophin gene mutations are commonly unaffected because the wild X allele may produce a sufficient amount of the dystrophin protein. However, approximately 8-10% of them may experience muscle symptoms and 50% of those over 40 years develop cardiomyopathy. The presence of symptoms defines the indiv...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Amir Dori Marianna Scutifero Luigia Passamano Dario Zoppi Lucia Ruggiero Antonio Trabacca Luisa Politano Source Type: research
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype
We report the first case of co-occurrence of type IXd and type II GSDs in a 53-year-old man with an atypical glycogen storage disease presentation consisting in myalgia in the lower limbs at both rest and after exercise and increased levels of transaminases from the age of 16. At the age of 43, the patient presented a steppage gait, inability to run and walk on his heels, hypotrophy of the pectoral and proximal muscles, reflexes not elicitable, and CK levels 3.6 times the upper reference limit. Next Generation Sequencing (NGS) identified one variant in the PHKA1 gene, c.1360A > G p.Ile454Val (exon 14) inherited by his m...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Esther Picillo Maria Elena Onore Luigia Passamano Vincenzo Nigro Luisa Politano Source Type: research
Fatigue in Spinal Muscular Atrophy: a fundamental open issue
Acta Myol. 2024 Mar 31;43(1):1-7. doi: 10.36185/2532-1900-402. eCollection 2024.ABSTRACTHereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult lif...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Oscar Crisafulli Angela Berardinelli Giuseppe D'Antona Source Type: research
Assessment of the quality of life in patients with LGMD. The case of transportinopathy
Acta Myol. 2024 Feb 27;43(1):16-20. doi: 10.36185/2532-1900-397. eCollection 2024.ABSTRACTThe Quality of Life (QOL) is influenced by several disease-related factors, support, resources, expectations, and aspirations, within the disease-related concepts. The Individualized Neuromuscular Quality of Life (INQoL) is a validated muscle disease-specific measure of the QoL developed from the experiences of patients with muscle disease and can be used for people or large cohorts. This review of QoL in transportinopathy cases reports adjustments in an autosomal dominant (AD) LGMD, and a comparison is made with autosomal recessive (...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Corrado Angelini Alicia Aurora Rodr íguez Source Type: research
Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study
Acta Myol. 2024 Feb 21;43(1):8-15. doi: 10.36185/2532-1900-398. eCollection 2024.ABSTRACTDuchenne muscular dystrophy (DMD) is a devastating X-linked neuromuscular disorder caused by dystrophin gene deletions (75%), duplications (15-20%) and point mutations (5-10%), a small portion of which are nonsense mutations. Women carrying dystrophin gene mutations are commonly unaffected because the wild X allele may produce a sufficient amount of the dystrophin protein. However, approximately 8-10% of them may experience muscle symptoms and 50% of those over 40 years develop cardiomyopathy. The presence of symptoms defines the indiv...
Source: Acta Myologica - April 8, 2024 Category: Neurology Authors: Amir Dori Marianna Scutifero Luigia Passamano Dario Zoppi Lucia Ruggiero Antonio Trabacca Luisa Politano Source Type: research
