Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients
CONCLUSIONS: The endurance evaluation should integrate the standard clinical monitoring in the management and follow-up of SMA adult patients.PMID:38090548 | PMC:PMC10712654 | DOI:10.36185/2532-1900-330 (Source: Acta Myologica)
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Giulia Ricci Francesca Torri Alessandra Govoni Roberto Chiappini Laura Manca Gabriele Vadi Stefano Roccella Francesca Magri Megi Meneri Federica Fassini Veria Vacchiano Silvia Tomassini Noemi Gironella Michela Coccia Giacomo Comi Rocco Liguori Gabriele Si Source Type: research
The atrial and ventricular myocardial proteome of end-stage lamin heart disease
Acta Myol. 2023 Sep 30;42(2-3):43-52. doi: 10.36185/2532-1900-339. eCollection 2023.ABSTRACTLamins A/C (encoded by LMNA gene) can lead to dilated cardiomyopathy (DCM). This pilot study sought to explore the postgenomic phenotype of end-stage lamin heart disease. Consecutive patients with end-stage lamin heart disease (LMNA-group, n = 7) and ischaemic DCM (ICM-group, n = 7) undergoing heart transplantation were prospectively enrolled. Samples were obtained from left atrium (LA), left ventricle (LV), right atrium (RA), right ventricle (RV) and interventricular septum (IVS), avoiding the infarcted myocardial segments in the I...
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Constantin-Cristian Topriceanu Mashael Alfarih Alun D Hughes Hunain Shiwani Fiona Chan Saidi A Mohiddin William Moody Richard P Steeds Benjamin O'Brien Jakob Vowinckel Petros Syrris Caroline Coats Stephen Pettit Eloisa Arbustini James C Moon Gabriella Cap Source Type: research
Sequential treatment with nusinersen, Zolgensma < sup > ® < /sup > and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report
Acta Myol. 2023 Sep 30;42(2-3):82-85. doi: 10.36185/2532-1900-356. eCollection 2023.ABSTRACTSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes muscle atrophy and weakness. While no specific therapies existed until a few years ago, several effective disease-modifying treatments have become available in recent years. However, there are currently no recommendations on the management of therapy sequencing involving these new treatments. A 4-months-old girl with SMA type 1 and two copies of SMN2 was started on treatment with nusinersen resulting in significant improvement in her motor and...
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Ilaria Bitetti Maria Rosaria Manna Roberto Stella Antonio Varone Source Type: research
Pregnancy experience in women with spinal muscular atrophy: a case series
This report shows that a successful pregnancy is possible in female patients with SMA. However, the ideal approach should involve a standardized multidisciplinary team capable of effectively addressing every possible scenario. For this reason, it is critically important that clinicians working with SMA patients gain more in-dept knowledge about this topic.PMID:38090543 | PMC:PMC10712658 | DOI:10.36185/2532-1900-316 (Source: Acta Myologica)
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Roberta Piera Bencivenga Dario Zoppi Anna Russo Emanuele Cassano Stefano Tozza Rosa Iodice Raffaele Dubbioso Fiore Manganelli Lucia Ruggiero Source Type: research
Cognitive function in DMD carriers: personal case series and literature review
This study aimed to investigate the cognitive involvement in a cohort of DMD carriers and to summarize the current knowledge about the intellectual involvement and neuropsychological profile in DMD/BMD carriers. Our case series consisted of 22 carrier patients from two different centers (IRCCS Mondino, Pavia and Policlinico Gemelli, Rome), for whom we retrospectively collected cognitive, clinical and genetic data. For literature review, we selected 9 studies published in English language from 2011 to 2023 and cited in PubMed. We found that the average IQ of DMD carriers was lower (74; very low) than the average score on no...
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Laura Carraro Arianna Iosca Maria Irene Dainesi Sara Fusco Daniela Pia Rosaria Chieffo Federica Moriconi Giulia d'Amario Marika Pane Eugenio Mercuri Angela Berardinelli Source Type: research
Spontaneously resolving late-onset ocular myasthenia related to COVID-19. A case report
We report a 77-year-old woman who developed right eyelid ptosis five days after COVID-19 infection. Positive serum anti-acetylcholine receptor antibodies allowed the diagnosis of myasthenia gravis. It should be noted that there were no significant decremental changes on 3 Hz repetitive motor nerve stimulation study, even for the affected orbicularis oculi muscle. Clinical and pathophysiological data suggest that inflammation during COVID-19 could trigger an overproduction of autoantibodies previously present in the body at a subclinical level. This is the first case of COVID-19 infection complicated by myasthenia gravis, t...
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Cyprian Popescu Source Type: research
An unusual way to improve lung function in congenital myopathies: the power of singing
Acta Myol. 2023 Sep 30;42(2-3):86-88. doi: 10.36185/2532-1900-357. eCollection 2023.ABSTRACTCongenital myopathies (CMs) are a clinically and genetically heterogeneous group of disorders characterized by early onset weakness, hypotonia and characteristic structural abnormalities in muscle fibres. Hypotonia and weakness can be present at birth or appear in infancy, and a static or slowly progressive clinical course may present with muscle weakness, loss of spontaneous movement, involuntary muscle activity, and muscle atrophy. Often patients develop a restrictive syndrome and respiratory failure and require respiratory suppor...
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Maria Rosaria Valentino Anna Annunziata Lidia Atripaldi Giuseppe Fiorentino Source Type: research
Fibromyalgia interventions, obstacles and prospects: narrative review
Acta Myol. 2023 Sep 30;42(2-3):71-81. doi: 10.36185/2532-1900-334. eCollection 2023.ABSTRACTThis review aims to increase awareness and improve understanding, diagnosis, and management of fibromyalgia - a complex, distressing health challenge that significantly impacts people's lives due to its variable nature and lack of clear diagnostic markers. Healthcare professionals must assist those with this condition and improve their general quality of life. Further, they can do a lot to improve the lives of people with Fibromyalgia by resolving diagnostic hurdles, promoting collaboration, supporting patient advocacy, advancing me...
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Afshan Zeeshan Wasti Amal M H Mackawy Amal Hussain Mohsina Huq Hanane Ahmed Anjuman Gul Memon Source Type: research
Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients
CONCLUSIONS: The endurance evaluation should integrate the standard clinical monitoring in the management and follow-up of SMA adult patients.PMID:38090548 | PMC:PMC10712654 | DOI:10.36185/2532-1900-330 (Source: Acta Myologica)
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Giulia Ricci Francesca Torri Alessandra Govoni Roberto Chiappini Laura Manca Gabriele Vadi Stefano Roccella Francesca Magri Megi Meneri Federica Fassini Veria Vacchiano Silvia Tomassini Noemi Gironella Michela Coccia Giacomo Comi Rocco Liguori Gabriele Si Source Type: research
The atrial and ventricular myocardial proteome of end-stage lamin heart disease
Acta Myol. 2023 Sep 30;42(2-3):43-52. doi: 10.36185/2532-1900-339. eCollection 2023.ABSTRACTLamins A/C (encoded by LMNA gene) can lead to dilated cardiomyopathy (DCM). This pilot study sought to explore the postgenomic phenotype of end-stage lamin heart disease. Consecutive patients with end-stage lamin heart disease (LMNA-group, n = 7) and ischaemic DCM (ICM-group, n = 7) undergoing heart transplantation were prospectively enrolled. Samples were obtained from left atrium (LA), left ventricle (LV), right atrium (RA), right ventricle (RV) and interventricular septum (IVS), avoiding the infarcted myocardial segments in the I...
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Constantin-Cristian Topriceanu Mashael Alfarih Alun D Hughes Hunain Shiwani Fiona Chan Saidi A Mohiddin William Moody Richard P Steeds Benjamin O'Brien Jakob Vowinckel Petros Syrris Caroline Coats Stephen Pettit Eloisa Arbustini James C Moon Gabriella Cap Source Type: research
Sequential treatment with nusinersen, Zolgensma < sup > ® < /sup > and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report
Acta Myol. 2023 Sep 30;42(2-3):82-85. doi: 10.36185/2532-1900-356. eCollection 2023.ABSTRACTSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes muscle atrophy and weakness. While no specific therapies existed until a few years ago, several effective disease-modifying treatments have become available in recent years. However, there are currently no recommendations on the management of therapy sequencing involving these new treatments. A 4-months-old girl with SMA type 1 and two copies of SMN2 was started on treatment with nusinersen resulting in significant improvement in her motor and...
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Ilaria Bitetti Maria Rosaria Manna Roberto Stella Antonio Varone Source Type: research
Pregnancy experience in women with spinal muscular atrophy: a case series
This report shows that a successful pregnancy is possible in female patients with SMA. However, the ideal approach should involve a standardized multidisciplinary team capable of effectively addressing every possible scenario. For this reason, it is critically important that clinicians working with SMA patients gain more in-dept knowledge about this topic.PMID:38090543 | PMC:PMC10712658 | DOI:10.36185/2532-1900-316 (Source: Acta Myologica)
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Roberta Piera Bencivenga Dario Zoppi Anna Russo Emanuele Cassano Stefano Tozza Rosa Iodice Raffaele Dubbioso Fiore Manganelli Lucia Ruggiero Source Type: research
Cognitive function in DMD carriers: personal case series and literature review
This study aimed to investigate the cognitive involvement in a cohort of DMD carriers and to summarize the current knowledge about the intellectual involvement and neuropsychological profile in DMD/BMD carriers. Our case series consisted of 22 carrier patients from two different centers (IRCCS Mondino, Pavia and Policlinico Gemelli, Rome), for whom we retrospectively collected cognitive, clinical and genetic data. For literature review, we selected 9 studies published in English language from 2011 to 2023 and cited in PubMed. We found that the average IQ of DMD carriers was lower (74; very low) than the average score on no...
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Laura Carraro Arianna Iosca Maria Irene Dainesi Sara Fusco Daniela Pia Rosaria Chieffo Federica Moriconi Giulia d'Amario Marika Pane Eugenio Mercuri Angela Berardinelli Source Type: research
Spontaneously resolving late-onset ocular myasthenia related to COVID-19. A case report
We report a 77-year-old woman who developed right eyelid ptosis five days after COVID-19 infection. Positive serum anti-acetylcholine receptor antibodies allowed the diagnosis of myasthenia gravis. It should be noted that there were no significant decremental changes on 3 Hz repetitive motor nerve stimulation study, even for the affected orbicularis oculi muscle. Clinical and pathophysiological data suggest that inflammation during COVID-19 could trigger an overproduction of autoantibodies previously present in the body at a subclinical level. This is the first case of COVID-19 infection complicated by myasthenia gravis, t...
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Cyprian Popescu Source Type: research
An unusual way to improve lung function in congenital myopathies: the power of singing
Acta Myol. 2023 Sep 30;42(2-3):86-88. doi: 10.36185/2532-1900-357. eCollection 2023.ABSTRACTCongenital myopathies (CMs) are a clinically and genetically heterogeneous group of disorders characterized by early onset weakness, hypotonia and characteristic structural abnormalities in muscle fibres. Hypotonia and weakness can be present at birth or appear in infancy, and a static or slowly progressive clinical course may present with muscle weakness, loss of spontaneous movement, involuntary muscle activity, and muscle atrophy. Often patients develop a restrictive syndrome and respiratory failure and require respiratory suppor...
Source: Acta Myologica - December 13, 2023 Category: Neurology Authors: Maria Rosaria Valentino Anna Annunziata Lidia Atripaldi Giuseppe Fiorentino Source Type: research
