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Neonatal maladjustment syndrome (NMS) is a syndrome where newborn foals exhibit uncommon behaviors, occurring in three to five percent of live births. These behaviors can include aimless wandering, hypersensitivity to loud sounds and brightness, weakness or coordination issues, and the incapability to nurse.
Prodromal symptoms are typically fever, cough, and rhinorrhea. BACM symptoms that follow are most frequently calf pain, gait complaints, and inability to walk. [2] The condition is self-limited and full restitution can be expected. In very rare cases, however, rhabdomyolysis may develop. [1]
Sporadic late-onset nemaline myopathy, or SLONM, is a very rare disease, one of the nemaline myopathies, causing loss of muscle bulk and weakness in the legs but sparing the cranial nerves, and beginning its clinical course after age 40. [1]
Chromosome Xp21 deletion syndrome Calf muscle [119] Childhood-onset Bilateral calf muscle hypertrophy [119] Neuromuscular oculoauditory syndrome (NMOAS) Calf muscle [120] Myopathy with extrapyramidal signs (MPXPS) Calf muscle [121] [122] Habitual toe walking secondary to autism spectrum disorder Calf muscle [51] Childhood-onset Muscle hypertrophy
Delandistrogene moxeparvovec (Elevidys) is a gene therapy that in June 2023 received United States FDA accelerated approval for the treatment of four and five-year-old children. [55] [56] In October 2023, the US Food and Drug Administration (FDA) approved Vamorolone (Agamree) as a Treatment for Duchenne muscular dystrophy.
A physical exam indicates a lack of pectoral and upper arm muscles, especially when the disease is unnoticed through the early teen years. Muscle wasting begins in the legs and pelvis, and then progresses to the muscles of the shoulders and neck. Calf muscle enlargement (pseudohypertrophy) is quite obvious. Among the exams/tests performed are ...
A Connecticut boy is among four children all born with severe childhood blindness who gained “life-changing improvements” to their vision after an experimental trial of gene therapy. Jace was ...
Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation).