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Neuromuscular Disorders: NMD

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https://www.readbyqxmd.com/read/28527585/a-9-year-follow-up-study-of-the-natural-progression-of-upper-limb-performance-in-myotonic-dystrophy-type-1-a-similar-decline-for-phenotypes-but-not-for-gender
#1
Kateri Raymond, Mélanie Levasseur, Jean Mathieu, Johanne Desrosiers, Cynthia Gagnon
This study aimed to document and compare the decline of upper limb performance among adults with myotonic dystrophy type 1 according to phenotype and gender. A longitudinal descriptive design compared upper limb performance at baseline and follow-up of 70 women and 38 men with the late-onset or adult phenotypes. Grip strength and pinch strength as well as gross dexterity and fine dexterity were assessed. All four performance measures decreased significantly (p <0.001). The decline over time was similar for individuals with the late-onset and adult-onset phenotypes, but differed according to gender...
May 2, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28495049/selective-or-predominant-triceps-muscle-weakness-in-african-american-patients-with-myasthenia-gravis
#2
Alon Abraham, Charles D Kassardjian, Hans D Katzberg, Vera Bril, Ari Breiner
Myasthenia gravis (MG) can lead to weakness in different patterns of muscle groups. Limb muscle weakness is most typically seen in a limb girdle pattern, although variants exist. In the current study, we aimed to describe a unique MG phenotype consisting of selective or predominant triceps muscle weakness. We performed a retrospective review of MG patients who developed focal or predominant triceps muscle weakness between 2006 and 2016. The clinical, electrophysiological and serological characteristics of these patients were examined...
April 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28495047/similar-clinical-pathological-and-genetic-features-in-chinese-patients-with-autosomal-recessive-and-dominant-charcot-marie-tooth-disease-type-2k
#3
Jun Fu, Shixu Dai, Yuanyuan Lu, Rui Wu, Zhaoxia Wang, Yun Yuan, He Lv
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause rare subtypes of Charcot-Marie-Tooth disease (CMT2K and CMT4A). CMT2K is an axonal neuropathy while CMT4A is a demyelinating type. In a series of 169 Chinese CMT patients (79 CMT1, 52 CMT2 and 38 unclassified), four unrelated patients (2.37%) were identified with GDAP1 mutations, including two with autosomal recessive CMT2K (AR-CMT2K) and two dominant CMT2K (AD-CMT2K). All patients had disease onset before 5 years of age, and presented with muscle weakness, atrophy, and mild sensory disturbance in distal limbs...
April 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28495045/deterioration-in-gait-and-functional-ambulation-in-children-and-adolescents-with-charcot-marie-tooth-disease-over-12-months
#4
Rachel Kennedy, Kate Carroll, Kade L Paterson, Monique M Ryan, Jennifer L McGinley
Children and adolescents with Charcot-Marie-Tooth disease (CMT) report problems with gait. Little is known about gait changes over time in children with this degenerative disease. This prospective longitudinal study investigated change in spatio-temporal gait parameters and functional ambulation. Two assessments were conducted 12 months apart. Assessments included: barefoot gait on an electronic walkway; functional ambulation with a six minute walk test and the Functional Mobility Scale; and disease severity with the CMT Pediatric Scale...
April 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28478914/late-onset-limb-girdle-muscular-dystrophy-caused-by-gmppb-mutations
#5
Hasan Balcin, Johanna Palmio, Sini Penttilä, Inger Nennesmo, Mikaela Lindfors, Göran Solders, Bjarne Udd
Mutations in GMPPB gene have been reported in patients with early-onset disease ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy (LGMD) with mental retardation. More recently mutations in GMPPB have been identified with congenital myasthenic syndromes as well as milder phenotypes. We report two unrelated cases with LGMD that underwent clinical, histopathological and genetic studies. In both cases, we found identical compound heterozygous GMPPB mutations c.79G>C p.D27H and c...
April 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28495050/deep-intronic-variants-introduce-dmd-pseudoexon-in-patient-with-muscular-dystrophy
#6
Ann-Kathrin Zaum, Burkhard Stüve, Andrea Gehrig, Heike Kölbel, Ulrike Schara, Wolfram Kress, Simone Rost
Dystrophinopathies are X-linked muscle diseases caused by mutations in the large DMD gene. The most common mutations are detected by standard diagnostic techniques. However, some patients remain without detectable mutation, most likely due to changes in the non-coding sequence. We report on a boy with complete absence of dystrophin in muscle biopsy but no causative mutation according to standard diagnostics. To search for deep intronic variations (DIV) in the DMD gene we isolated mRNA from muscle tissue and amplified overlapping cDNA fragments using RT-PCR...
April 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28495048/hla-and-age-of-onset-in-myasthenia-gravis
#7
Ernestina Santos, Andreia Bettencourt, Ana Martins da Silva, Daniela Boleixa, Dina Lopes, Sandra Brás, Paulo Pinho E Costa, Carlos Lopes, Guilherme Gonçalves, Maria Isabel Leite, Berta Martins da Silva
The aetiology of MG is unknown, but both genetic and environmental factors are important. Over the years association of MG with Human Leucocyte Antigens (HLA) has been described in different populations. We investigated a possible association between HLA-DRB1 alleles and age of onset in MG. One hundred and fourteen MG patients (82 females) and 282 control individuals (CP) were studied. Patients were classified according to the age of onset (early-onset <50, n = 74 and late-onset ≥ 50, n = 20)...
April 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28495046/transient-neonatal-myasthenia-gravis-due-to-a-mother-with-ocular-onset-of-anti-muscle-specific-kinase-myasthenia-gravis
#8
Ju-Yeun Lee, Ju-Hong Min, Sueng-Han Han, Jinu Han
We describe a 27-year-old pregnant female with new onset of conjugate gaze deficit during the third trimester of pregnancy. Repetitive nerve stimulation tests, neostigmine tests, and acetylcholine receptor antibody assays were all negative. The patient delivered a normal healthy baby at a local clinic via cesarean section. The baby became hypotonic and had respiratory failure several minutes after birth. The result of acetylcholine receptor antibody was negative in the neonate. The neonate became healthy spontaneously and was extubated after 21 days of ventilation care...
April 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28462787/inspiratory-muscle-training-for-children-and-adolescents-with-neuromuscular-diseases-a-systematic-review
#9
REVIEW
Anri Human, Lieselotte Corten, Jennifer Jelsma, Brenda Morrow
Patients with neuromuscular diseases are at risk of morbidity and mortality due to respiratory compromise caused by respiratory muscle weakness. A systematic review was performed using pre-specified search strategies to determine the safety of inspiratory muscle training (IMT) and whether it has an impact on inspiratory muscle strength and endurance, exercise capacity, pulmonary function, dyspnoea and health-related quality of life. Randomised, quasi-randomised, cross-over and clinical controlled trials were included if they assessed the use of an external IMT device compared to no, sham/placebo, or alternative IMT treatment in children aged 5-18 years with neuromuscular diseases...
March 29, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28416348/respiratory-function-in-facioscapulohumeral-muscular-dystrophy-1
#10
M Wohlgemuth, C G C Horlings, E L van der Kooi, H J Gilhuis, J C M Hendriks, S M van der Maarel, B G M van Engelen, Y F Heijdra, G W Padberg
To test the hypothesis that wheelchair dependency and (kypho-)scoliosis are risk factors for developing respiratory insufficiency in facioscapulohumeral muscular dystrophy, we examined 81 patients with facioscapulohumeral muscular dystrophy 1 of varying degrees of severity ranging from ambulatory patients to wheelchair-bound patients. We examined the patients neurologically and by conducting pulmonary function tests: Forced Vital Capacity, Forced Expiratory Volume in 1 second, and static maximal inspiratory and expiratory mouth pressures...
March 22, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28433474/beneficial-effect-of-tocilizumab-in-myasthenia-gravis-refractory-to-rituximab
#11
Dagur Ingi Jonsson, Ritva Pirskanen, Fredrik Piehl
Muscle fatigue associated with myasthenia gravis is caused by autoantibodies interfering with neuromuscular transmission. Immunomodulating treatment is widely used in moderate to severe myasthenia, although the use of newer biological drugs except rituximab is rare. We describe the effect of tocilizumab, a blocker of interleukin-6 signalling, in two female myasthenia patients with high titres of serum acetylcholine receptor antibodies and insufficient response to rituximab. The first patient had been treated with high dose immunoglobulins regularly for several years and the second patient had been treated both with different oral immune suppressants and immunoglobulins before testing a low dose of rituximab without significant clinical effect...
March 16, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28433478/investigation-on-acute-effects-of-enzyme-replacement-therapy-and-influence-of-clinical-severity-on-physiological-variables-related-to-exercise-tolerance-in-patients-with-late-onset-pompe-disease
#12
Annalisa Sechi, Desy Salvadego, Alessandro Da Ponte, Nicole Bertin, Andrea Dardis, Silvia Cattarossi, Grazia Devigili, Federico Reccardini, Bruno Bembi, Bruno Grassi
Exercise intolerance is one of the clinical hallmarks of late-onset Pompe disease (LOPD). We studied the acute effects of ERT on the physiological variables associated with exercise tolerance in patients chronically ERT treated. Moreover, we assessed the influence of clinical severity on the investigated variables. The day before (B) and the day after (A) ERT injection, 11 LOPD patients performed on a cycle-ergometer an exercise tolerance test to voluntary exhaustion; VO2, HR, RPE, and GAA activity were determined in B and A...
March 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28433477/novel-mutations-in-the-c-terminal-region-of-gmppb-causing-limb-girdle-muscular-dystrophy-overlapping-with-congenital-myasthenic-syndrome
#13
Sushan Luo, Shuang Cai, Susan Maxwell, Dongyue Yue, Wenhua Zhu, Kai Qiao, Zhen Zhu, Lei Zhou, Jianying Xi, Jiahong Lu, David Beeson, Chongbo Zhao
Mutations in the GMPPB gene may underlie both limb girdle muscular dystrophy (LGMD) and congenital myasthenic syndrome (CMS). Forty-one cases have been reported to date and hotspot mutations are emerging in the Caucasian population. Clinical and pathological features of 5 patients with compound heterozygous GMPPB mutations were collected and retrospectively reviewed. In vitro functional analysis was performed to investigate the pathogeneity of GMPPB variants. The patients presented with proximal limb weakness in their first to second decades...
March 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28433476/patient-with-multiple-acyl-coa-dehydrogenation-deficiency-disease-and-flad1-mutations-benefits-from-riboflavin-therapy
#14
M Auranen, A Paetau, P Piirilä, A Pohju, T Salmi, A Lamminen, M Löfberg, S Mosegaard, R K Olsen, T Tyni
Multiple acyl-CoA dehydrogenation deficiency is genetically heterogenous metabolic disease with mutations in genes involved in electron transfer to the mitochondrial respiratory chain. Disease symptoms vary from severe neonatal form to late-onset presentation with metabolic acidosis, lethargy, vomiting, muscle pain and weakness. Riboflavin therapy has been shown to ameliorate diseases symptoms in some of these patients. Recently, mutations in FAD synthase have been described to cause multiple acyl-CoA dehydrogenation deficiency...
March 9, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28479227/limb-girdle-muscular-dystrophy-type-2i-no-correlation-between-clinical-severity-histopathology-and-glycosylated-%C3%AE-dystroglycan-levels-in-patients-homozygous-for-common-fkrp-mutation
#15
Maisoon Alhamidi, Vigdis Brox, Eva Stensland, Merete Liset, Sigurd Lindal, Øivind Nilssen
Limb girdle muscular dystrophy type 2I (LGMD2I) is a progressive disorder caused by mutations in the FuKutin-Related Protein gene (FKRP). LGMD2I displays clinical heterogeneity with onset of severe symptoms in early childhood to mild calf and thigh hypertrophy in the second or third decade. Patients homozygous for the common FKRP mutation c.826C>A (p.Leu276Ile) show phenotypes within the milder end of the clinical spectrum. However, this group also manifests substantial clinical variability. FKRP deficiency causes hypoglycosylation of α-dystroglycan; a component of the dystrophin associated glycoprotein complex...
March 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28434909/facilitating-orphan-drug-development-proceedings-of-the-treat-nmd-international-conference-december-2015-washington-dc-usa
#16
E P Hoffman
No abstract text is available yet for this article.
March 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28521973/1st-international-workshop-on-clinical-trial-readiness-for-sarcoglycanopathies-15-16-november-2016-evry-france
#17
Justine Marsolier, Pascal Laforet, Elena Pegoraro, John Vissing, Isabelle Richard
No abstract text is available yet for this article.
March 3, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28416349/cytoplasmic-body-pathology-in-severe-acta1-related-myopathy-in-the-absence-of-typical-nemaline-rods
#18
Sandra Donkervoort, Sophelia H S Chan, Leslie H Hayes, Nathaniel Bradley, David Nguyen, Meganne E Leach, Payam Mohassel, Ying Hu, Mathula Thangarajh, Diana Bharucha-Goebel, Amanda Kan, Ronnie S L Ho, Christine A Reyes, Jessica Nance, Steven A Moore, A Reghan Foley, Carsten G Bönnemann
Mutations in ACTA1 cause a group of myopathies with expanding clinical and histopathological heterogeneity. We describe three patients with severe ACTA1-related myopathy who have muscle fiber cytoplasmic bodies but no classic nemaline rods. Patient 1 is a five-year-old boy who presented at birth with severe weakness and respiratory failure, requiring mechanical ventilation. Whole exome sequencing identified a heterozygous c.282C>A (p.Asn94Lys) ACTA1 mutation. Patients 2 and 3 were twin boys with hypotonia, severe weakness, and respiratory insufficiency at birth requiring mechanical ventilation...
March 2, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28392274/218th-enmc-international-workshop-revisiting-the-consensus-on-standards-of-care-in-sma-naarden-the-netherlands-19-21-february-2016
#19
Richard S Finkel, Thomas Sejersen, Eugenio Mercuri
No abstract text is available yet for this article.
March 2, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28434908/duchenne-muscular-dystrophy-in-a-female-with-compound-heterozygous-contiguous-exon-deletions
#20
Eri Takeshita, Narihiro Minami, Kumiko Minami, Mikiya Suzuki, Takeya Awashima, Akihiko Ishiyama, Hirofumi Komaki, Ichizo Nishino, Masayuki Sasaki
Females with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) mutations rarely exhibit clinical symptoms from childhood, although potential mechanisms for symptoms associated with DMD and BMD in females have been reported. We report the case of a female DMD patient with a clinical course indistinguishable from that of a male DMD patient, and who possessed compound heterozygous contiguous exon deletions in the dystrophin gene. She exhibited Gowers' sign, calf muscle hypertrophy, and a high serum creatine kinase level at 2 years...
June 2017: Neuromuscular Disorders: NMD
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