Results 101 to 110 of about 31,520 (324)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

CORRELATION OF BIRTH WEIGHT, GESTATIONAL AGE AND MUSCLE TONE WITH MOTOR DEVELOPMENT OF PRETERM INFANTS

International Journal of Physiotherapy, 2018
Background: Muscle tone in Preterm infants (PTI) is lower actively and passively compared to full-term infants (FTI) due to reduced flexor muscle tone even at term age.
Pavani Vungarala, Rajeswari M
doaj   +1 more source

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. [PDF]

, 2019
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families.
Adams, David, Au, Margaret G, Bai, Renkui, Buckley, David J, Collier, Ashley, Cui, Hong, Diaz, Frank, Gahl, William, Graham, John M, Haude, Katrina, Kim, Jaemin, Lewis, Richard, Mathews, Katherine D, Millian Zamora, Francisca, Otero, Maria G, Panzer, Karin, Pierson, Tyler Mark, Tifft, Cynthia J, Tiongson, Emmanuelle, Toro, Camilo, Turner, Lesley   +20 more
core  

A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy [PDF]

, 2013
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In
Alessandra Maresca, Andrea Angius, Andrea Angius, Antonia Parmeggiani, Flavia Palombo, Francesco Cucca, Laura Crisponi, Marco Seri, Maria Lucia Valentino, Rocco Liguori, Tommaso Pippucci, Valerio Carelli   +11 more
core   +4 more sources

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +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

Neonatal muscle hypotonia--an early manifestation of cerebral palsy.

Folia medica, 2001
Cerebral palsy causes a number of diagnostic, therapeutic, organisational, and social problems. A timely diagnosis reduces the unfavourable effects of the disease and the resulting disability of the children.The aim of the present study was to evaluate the role of the neonatal muscle hypotonia as an early indicative symptom of cerebral palsy (CP).Forty-
M B, Krusteva, B P, Krustev, S A, Mileva
openaire   +1 more source

Orofacial Proprioceptive Stimulation Therapy with a Palatal Memory Plate in a Baby with Down Syndrome – 2-year Follow-up Case Report

Contemporary Clinical Dentistry
Children with Down syndrome (DS) have oral manifestations, such as hypotonia of the perioral muscles, inadequate lip seal, and tongue posture changes, which affect the development of the stomatognathic system.
Fábia Ulisses Peixoto Esmeraldo, Natalia Victoria Del Carmen Guerra Trujillo, Sirannara Paulino Gomes Morbeck, Lívia Lima Xavier, Rebeca Bastos Vasconcelos Marinho, Isabella Fernandes Carvalho   +5 more
doaj   +1 more source

A case of infant botulism in a 4-month-old baby [PDF]

, 2016
This case-report highlights: i) the difficulty of IB diagnosis as it is a rare syndrome with subclinical onset, ii) the need for an accurate training for physicians involved in IB management, iii) the efficacy and safety of TEqA in IB treatment, iv ...
Bruna Auricchio, Dilettta Sabatini, Fabrizio Anniballi, GRASSI, Maria Caterina, Laura Papetti, LONATI, DAVIDE, PROPERZI, Enrico   +6 more
core   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source