Results 51 to 60 of about 52,839 (293)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Occupational and Physical Therapy Interventions for Young Children with Developmental Central Hypotonia: An Overview of Systematic Reviews

Disabilities
Developmental central hypotonia describes children with decreased muscle tone due to non-progressive central damage, and includes many genetic conditions (e.g., Down, Prader–Willi or Joubert syndromes etc.), cerebral palsy with hypotonia as the main ...
Ginny S. Paleg, Álvaro Hidalgo Robles, Pragashnie Govender, Roslyn W. Livingstone   +3 more
doaj   +1 more source

Joubert Syndrome: A Case Report

Nepal Journal of Neuroscience, 2018
Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation.
Prakash Kafle , Sushil Krishna Shilpakar, Mohan Raj Sharma, Gopal Sedain, Amit K Pradhanang, Binod Raj Bhandari   +5 more
doaj   +1 more source

Mitochondrial Myopathy and Hypotonia

, 1992
Three children with hypotonia, cardiac impairment, and defects of the mitochondrial respiratory chain complexes, but no ragged red fibers, are reported from the Hopital de la Timone, Chemin de l’Armee, d’Afrique, Marseille ...
J Gordon Millichap
core   +1 more source

The Floppy Infant : Evaluation of Hypotonia [PDF]

, 2023
Hipotonija u novorođenčadi i dojenčadi predstavlja dijagnostički izazov za neonatologe i pedijatre, budući da je to klinički simptom koji upućuje na dobroćudna, ali i ozbiljna stanja.
Barišić, Nina, Kuzmanić Šamija, Radenka   +1 more
core   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Congenital Myopathy Due to RyR1 Gene Mutation in a Newborn Masquerading as a Consequence of Hypoxic-ischemic Encephalopathy

Indian Pediatrics Case Reports
Background: Congenital myopathies may be a cause of prolonged and persistent hypotonia and weakness in a newborn, which may be overlooked as a neurological consequence of hypoxic-ischemic encephalopathy.
Yamini Patial, Rohit Anand
doaj   +1 more source

Propionic Acidemia: Prognosis

Pediatric Neurology Briefs, 1992
The neurologic outcome of 20 patients with propionic acidemia was evaluated at the Medical Unit, Institute of Child Health, London, England.
J Gordon Millichap
doaj   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Mitochondrial Myopathy with DNA Depletion

Pediatric Neurology Briefs, 1992
Five children with mitochondrial myopathy associated with depletion of muscle mtDNA are reported from the Departments of Neurology and Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY and other centers in ...
J Gordon Millichap
doaj   +1 more source