Charcot-Marie-Tooth Disease Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

P95 Implementing clinical guidelines for neuromuscular disorders
In 2022, two clinical practice guidelines were published, one for allied health and nursing assessment and management of individuals with Duchenne muscular dystrophy (DMD) and the other, for the management of paediatric Charcot-Marie-Tooth disease (CMT). Over the last 10 years, there has been a proliferation of practice guidelines and standards of care for neuromuscular disorders. However, very little is known about adherence to and implementation of these guidelines by health professionals delivering neuromuscular care. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: R. Kennedy, K. Carroll, E. Yiu, G. Donlevy, P. Bray, M. Klaic, Z. Davidson Source Type: research

P93 Effect of intensive and individualized physiotherapy for persons with CMT- a single-subject experimental design study
Charcot-Marie-Tooth (CMT) disease is a rare inherited neuromuscular disease. The disease primarily affects distal nerves in the legs and arms, leading to decreased muscle strength, sensory deficits and structural deformity in the feet, often resulting in gait and balance difficulties. Physiotherapy is generally recommended for this patient group, but despite this, there are few studies that have examined its effect. The study purpose was to investigate how two weeks of intensive and individualized physiotherapy for up to 90 minutes daily affect gait function and balance in adults with CMT. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: L. Brekke, A. Rosenberger, A. Lahelle Source Type: research

O14 Experiences with pregnancy and pregnancy-related physiotherapy in women with Charcot-Marie-Tooth disease. A qualitative interview study
Pregnancy, childbearing and motherhood means a huge bodily and emotionally change in women's lives. This can be challenging for everyone, but even more so for women with a physical disability. Charcot-Marie-Tooth disease (CMT) is a rare, hereditary neuromuscular disease which affects the peripheral motor and sensory nerves, leading to muscular weakness and sensory deficits creating challenges in different daily functions. Pregnancy may exacerbate this. The purpose of the study was thus to provide new knowledge about how women with CMT experience pregnancy, childbearing and the period with a newborn, and about their experie...
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: N. Boda, A. Rosenberger, A. Lahelle Source Type: research

O10 Universal genomic newborn screening for early, treatable, and severe conditions- including 33 genes of NMD: Baby Detect
Newborn screening (NBS) has traditionally been performed using biochemical and metabolic techniques that have greatly improved the management of many serious but treatable conditions. Building on the success of the Spinal Muscular Atrophy NBS launched in 2018, we started the Baby Detect pilot project in September 2022. Baby Detect is designed to screen for 126 serious, treatable and early-onset genetic diseases, caused by 361 genes mutations. Hereditary motor and sensory neuropathy (gene PDXK), spinal muscular atrophy, and 30 congenital myasthenic syndrome – caused by mutation in 33 genes – are included in the current ...
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: T. Dangouloff, K. Hovhannesyan, F. Piazzon, D. Mashhadizadeh, L. Helou, L. Palmeira, F. Boemer, L. Servais Source Type: research

P337 Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP: a case report
Variants in MCM3AP, encoding the germinal-centre associated nuclear protein, have been associated with mild-to-moderate intellectual disability, or sensory-motor polyneuropathy and distal weakness, with or without strabismus and/or ophthalmoparesis, skin changes and myelodysplasia in some cases. MCM3AP encoded protein functions as an acetyltransferase that acetylates the replication protein, MCM3, and plays a key role in the regulation of DNA replication. Variants in MCM3AP, in which CMT and MS coexist, have been described in a few cases in the literature as case reports. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: D. Yuksel, R. Gocmen, C. Temucin, N. Lafci Source Type: research

Vibration perception among children and adolescents with Charcot-Marie-tooth disease and implications for foot posture
These new findings may guide the clinical evaluation and rehabilitation treatment for children and adolescents with Charcot-Marie-Tooth disease. (Source: Clinical Biomechanics)
Source: Clinical Biomechanics - September 27, 2023 Category: Orthopaedics Authors: Juliana Cardoso, Cyntia Rogean de Jesus Alves de Baptista, Beatriz Parra Buzzetti, Cristina Dallemole Sartor, Wilson Marques J únior, Isabel de Camargo Neves Sacco, Ana Claudia Mattiello-Sverzut Source Type: research

Clinical trials in Charcot-Marie-Tooth disorders: a retrospective and preclinical assessment
ConclusionCurrent CMT trials are exploring procedural and molecular therapeutic options with substantial participation of the pharmaceutical industry worldwide. Emerging drug therapies directed at molecular pathogenesis are being advanced in human clinical trials; however, the majority remain within animal investigations. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - September 22, 2023 Category: Neurology Source Type: research

Safety of anti-IL-23 risankizumab treatment in a patient with severe psoriasis and Charcot-Marie-Tooth disease
Australas J Dermatol. 2023 Sep 12. doi: 10.1111/ajd.14154. Online ahead of print.NO ABSTRACTPMID:37698028 | DOI:10.1111/ajd.14154 (Source: The Australasian Journal of Dermatology)
Source: The Australasian Journal of Dermatology - September 12, 2023 Category: Dermatology Authors: Andrea Carugno Noemi Brigenti Paolo Gisondi Zeina Al Ghadban Michele Parietti Pamela Vezzoli Paolo Sena Chiara Pisciotta Source Type: research

Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
Discussion The presence of MN involvement, motor neuropathy, small fiber neuropathy, or extrapyramidal signs should not preclude RFC1 testing in cases of sensory neuronopathy. Indeed, the RFC1 spectrum can overlap not only with multiple system atrophy but also with hereditary motor and sensory neuropathy, hereditary sensory and autonomic neuropathy, and feeding dystonia phenotypes. Some clinical-paraclinical dissociations can pose diagnostic challenges, namely large and small fiber neuropathy and sudomotor dysfunction which are usually subclinical. (Source: Neurology Clinical Practice)
Source: Neurology Clinical Practice - September 5, 2023 Category: Neurology Authors: Malaquias, M. J., Braz, L., Santos Silva, C., Damasio, J., Jorge, A., Lemos, J. M., Campos, C. F., Garcez, D., Oliveira Santos, M., Velon, A. G., Caetano, A., Calejo, M., Fernandes, P., Rego, A., Castro, S., Sousa, A. P., Cardoso, M. N., Fernandes, M., Pi Tags: Dystonia, All Neuromuscular Disease, Vertigo, All Genetics Research Article Source Type: research

ATP1A1-linked diseases require a malfunctioning protein product from one allele
Biochim Biophys Acta Mol Cell Res. 2023 Aug 31:119572. doi: 10.1016/j.bbamcr.2023.119572. Online ahead of print.ABSTRACTHeterozygous germline variants in ATP1A1, the gene encoding the α1 subunit of the Na+/K+-ATPase (NKA), have been linked to diseases including primary hyperaldosteronism and the peripheral neuropathy Charcot-Marie-Tooth disease (CMT). ATP1A1 variants that cause CMT induce loss-of-function of NKA. This heterodimeric (αβ) enzyme hydrolyzes ATP to establish transmembrane electrochemical gradients of Na+ and K+ that are essential for electrical signaling and cell survival. Of the 4 catalytic subunit isoform...
Source: Biochimica et Biophysica Acta - September 2, 2023 Category: Biochemistry Authors: Kerri Spontarelli Victoria C Young Ryan Sweazey Alexandria Padro Jeannie Lee Tulio Bueso Roberto M Hernandez Jongyeol Kim Alexander Katz Francis Rossignol Clesson Turner Caralynn M Wilczewski George L Maxwell Miguel Holmgren Jeremy D Bailoo Sho T Yano Pab Source Type: research

ATP1A1-linked diseases require a malfunctioning protein product from one allele
Biochim Biophys Acta Mol Cell Res. 2023 Aug 31:119572. doi: 10.1016/j.bbamcr.2023.119572. Online ahead of print.ABSTRACTHeterozygous germline variants in ATP1A1, the gene encoding the α1 subunit of the Na+/K+-ATPase (NKA), have been linked to diseases including primary hyperaldosteronism and the peripheral neuropathy Charcot-Marie-Tooth disease (CMT). ATP1A1 variants that cause CMT induce loss-of-function of NKA. This heterodimeric (αβ) enzyme hydrolyzes ATP to establish transmembrane electrochemical gradients of Na+ and K+ that are essential for electrical signaling and cell survival. Of the 4 catalytic subunit isoform...
Source: Cell Research - September 2, 2023 Category: Cytology Authors: Kerri Spontarelli Victoria C Young Ryan Sweazey Alexandria Padro Jeannie Lee Tulio Bueso Roberto M Hernandez Jongyeol Kim Alexander Katz Francis Rossignol Clesson Turner Caralynn M Wilczewski George L Maxwell Miguel Holmgren Jeremy D Bailoo Sho T Yano Pab Source Type: research

Disease Activity in Chronic Inflammatory Demyelinating Polyneuropathy: Association Between Circulating B Cell Subsets, Cytokine Levels and Clinical Outcomes
DISCUSSION: Altered B-cell homeostasis and IL10 and TNFA gene expression levels imply chronic antigen exposure and overactivity in humoral immune system, and seem to be a common pathological pathway in both typical CIDP and CIDP variants.PMID:37638717 | DOI:10.1093/cei/uxad103 (Source: Clinical and Developmental Immunology)
Source: Clinical and Developmental Immunology - August 28, 2023 Category: Allergy & Immunology Authors: Ayse Nur Ozdag Acarli Erdem Tuzun Elif Sanli Gizem Koral Ece Akbayir Arman Cakar Nermin Gorkem Sirin Aysun Soysal Fikret Aysal Hacer Durmus Yesim Parman Vuslat Yilmaz Source Type: research