Results 51 to 60 of about 5,969 (170)

Child Neurology: Pompe disease [PDF]

Neurology, 2012
A 10-month-old full-term baby girl was transferred to our tertiary care hospital for respiratory distress and hypoxemia. Developmental history revealed significant motor delay. On physical examination, she was noted to be hypotonic, to be dysmorphic with macroglossia, and to have hepatomegaly.
Deepa S, Rajan, Hoda, Abdel-Hamid
openaire   +2 more sources

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Yasmina Rahmuni, Ilham Ratbi, Jaber Lyahyai, Imane Cherkaoui Jaouad, Ourayna Batta, Aziza Sbiti, Maryem Sahli, Omar Askander, Zineb Rchiad, Abdelaziz Sefiani   +9 more
wiley   +1 more source

Effectiveness of Respiratory Muscle Training in Pompe Disease: A Systematic Review and Meta-Analysis

Children
Background: Pompe disease is a rare metabolic myopathy caused by the lack or deficiency of the lysosomal acid alpha-glucosidase, resulting in skeletal muscle weakness and cardiomyopathy.
Mu-Yun Lin, Szu-Han Chen, Jen-Ting Lee, Po-Cheng Hsu   +3 more
doaj   +1 more source

Impact of a Neurogenic Dysphagia Outpatient Clinic on Diagnosis, Treatment, and Nutrition

European Journal of Neurology, Volume 33, Issue 3, March 2026.
This retrospective study analyzed 255 patients evaluated at a university‐led neurogenic dysphagia outpatient clinic between 2021 and 2023. It assessed diagnostic, therapeutic, and nutritional outcomes using FEES‐based swallowing evaluations. The findings show that structured outpatient dysphagia care significantly enhances diagnostic precision, guides ...
Bendix Labeit, Jasmin Bach, Elena Harborth, Rainer Dziewas, Sven G. Meuth, Christian Grefkes, Laurent Willems, Sriramya Lapa   +7 more
wiley   +1 more source

Cipaglucosidase alfa-atga: Unveiling new horizons in Pompe disease therapy

Health Sciences Review
Pompe disease is a lysosomal storage disease characterized by impaired glycogen breakdown due to an acid α-glucosidase (GAA) enzyme deficiency. Without therapy, children with the severe infantile form do not survive past their first year of life ...
Arshdeep Singh, Rabin Debnath, Aniket Saini, Kushal Seni, Anjali Sharma, Deepak Singh Bisht, Viney Chawla, Pooja A Chawla   +7 more
doaj   +1 more source

Muscle MRI and Muscle Ultrasound Applications in MND/ALS: Academic Insights and Clinical Opportunities

European Journal of Neurology, Volume 33, Issue 3, March 2026.
ABSTRACT Background There is an unmet need for the clinically relevant ALS biomarkers to facilitate an accurate diagnosis in suspected cases, monitor disease progression and evaluate response to therapy in clinical trials. While the MND/ALS literature is dominated by innovative brain studies, motor disability in ALS is primarily driven by neurogenic ...
Alison Toomey, Jana Kleinerova, Ee Ling Tan, We Fong Siah, Peter Bede   +4 more
wiley   +1 more source

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions

Traffic, Volume 27, Issue 1, March 2026.
Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang, Jingyi Fu, Shan Li, Zehui Li, Qirui Zhao, Yuqi Yin, Mei Yang, Yonghua Wang   +7 more
wiley   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 285-295, February 2026.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease

Pielęgniarstwo Neurologiczne i Neurochirurgiczne, 2019
Introduction. Pompe disease, a severe metabolic myopathy, is caused by mutations in the gene coding for acid alpha-glucosidase (GAA), what lead to intralysosomal accumulation of glycogen in all tissues, most notably in skeletal muscles. Pompe disease was
Anna Roszmann, Mikołaj Hamerski, Marcelina Skrzypek-Czerko   +2 more
doaj   +1 more source

Adult Form of Pompe Disease

Advances in Respiratory Medicine, 2008
Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-glucosidase (GAA), leading to the accumulation of glycogen in the lysosomes primarily in muscle cells. In the adult form of the disease, proximal muscle weakness is noted and muscle volume is decreased.
Ziółkowska-Graca, Bożena, Kania, Aleksander, Zwolińska, Grażyna, Niżankowska-Mogilnicka, Ewa   +3 more
openaire   +3 more sources