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1,191 Possible Causes for Muscle Hypotonia, Speech Delay

  • Osteoporosis-Pseudoglioma Syndrome

    He is developmentally delayed and has just commenced “bum shuffling.” There is also intellectual and speech delay, short stature, but no hearing impairment.[bjo.bmj.com] hypotonia, obesity, mental retardation (in some cases), ligament laxity, severe osteoporosis, multiple fractures, short stature, kyphoscoliosis, hyperextensible joints, and[iofbonehealth.org] Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible[ghr.nlm.nih.gov]

  • Infantile Neuroaxonal Dystrophy

    speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[rarediseases.info.nih.gov] A child who shows progressive motor and mental deterioration after the first year of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, suggests to have[ncbi.nlm.nih.gov] The patient was a boy with negative family history who showed progressive neurologic symptoms (deviation of bulbi, muscle hypotonia and quadruplegia in flexion) soon after[semanticscholar.org]

  • EAST Syndrome

    speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[rarediseases.info.nih.gov] Articulaton defect Mild articulation problem Delayed speech Stertor Mild No No Latest weight 5500 GMS 6400 GMS 7200 GMS Radiological findings Nephrocalcinosis Nephrocalcinosis[alliedacademies.org] Low or weak muscle tone 0001252 Polydipsia 0001959 Polyuria Increased urine output 0000103 Renal potassium wasting 0000128 Renal salt wasting 0000127 Renal sodium wasting[rarediseases.info.nih.gov]

  • Tyrosinemia

    In tyrosinemia type III, the most common symptoms are mental and motor developmental retardation, dyslexia, hyperactivity, and speech delay (1,3,4).[turkjem.org] […] quivering (tremor) and/or weak muscles (hypotonia).[diseaseinfosearch.org] Others may have developmental delay, behavioral problems such as ADHD, seizures, small head size (microcephaly), lack of muscle control (ataxia), involuntary shakiness or[diseaseinfosearch.org]

  • Short Chain Acyl CoA Dehydrogenase Deficiency

    None developed epilepsy or behavioral disorders, and three patients had isolated speech delay. Hypoglycemia occurred in two patients, both in the neonatal period.[ncbi.nlm.nih.gov] Genetic defect of SCAD was documented to cause clinical symptoms such as progressive psychomotor retardation, muscle hypotonia, and myopathy in early reports.[ncbi.nlm.nih.gov] During a follow-up of 1–7 years, in two of them (siblings), speech delay was diagnosed.[link.springer.com]

  • Tyrosinemia Type 3

    In tyrosinemia type III, the most common symptoms are mental and motor developmental retardation, dyslexia, hyperactivity, and speech delay (1,3,4).[turkjem.org] […] quivering (tremor) and/or weak muscles (hypotonia).[diseaseinfosearch.org] Clinical presentation included punctate hyperkeratosis of the fingers and toes (Figure, A), severe photophobia with decreased visual acuity, and speech delay.[mdedge.com]

  • Homocystinuria

    On preanesthetic check up, history revealed full term normal vaginal delivery of child and with no perinatal complications with history of speech delay at age of 3 years.[apicareonline.com] hypotonia at birth; progressive scoliosis, present at birth or within the first year of life; and scleral fragility and increased risk of rupture of the globe.[medicalhomeportal.org] […] and masticatory muscles) but no dolichocephalic skull nor long face.[ncbi.nlm.nih.gov]

  • Fukuyama Muscular Dystrophy

    Developmental and speech delay occur in all individual with FCMD. Other symptoms include seizures, clinical features related to cardiomyopathy, and cardiac failure.[ajnr.org] Fukuyama congenital muscular dystrophy is a more severe disorder characterized by brain malformations, hypotonia and muscle weakness.[sema4.com] These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to severe intellectual disability.[secure.ssa.gov]

  • Lesch Nyhan Syndrome

    , delayed speech initiation, dystonias, and ballistic movements.[n.neurology.org] […] tone or soft muscles (hypotonia).[thinkgenetic.com] Poor muscle tone Delayed or speech defects Extensive loss of motor control that can prevent patients from walking and relegate them to a wheelchair.[syndromepictures.com]

  • Aspartylglucosaminuria

    The classical aspartylglucosaminuria phenotype (progressive speech delay, psychomotor retardation, and behavioral abnormalities) was observed in 3 Turkish siblings.[ncbi.nlm.nih.gov] Additional musculoskeletal (thickening of the ribs and skull, lordosis, vertebral dysplasia, contractures in fingers and elbows, a knock knee, muscle atrophy and hypotonia[symptoma.com] Initial symptoms may present as clumsiness and/or speech delay. Individuals with AGU also show increased upper respiratory infections.[ismrd.org]

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