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932 Possible Causes for Muscle Hypotonia, Speech Delay

  • 22q11.2 Duplication Syndrome

    The degree of developmental delay varied from mild global developmental delay to isolated speech delay or normal cognition.[doi.org] […] tone (hypotonia).[thinkgenetic.com] Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak muscle tone (hypotonia).[malacards.org]

  • Angelman Syndrome

    He has mild developmental delay, moderate speech delay, and no seizures.[ncbi.nlm.nih.gov] Cerebellar ataxia, muscle hypotonia and tremor, though constant in childhood, tend to be attenuated in adulthood.[ncbi.nlm.nih.gov] HYPOTONIA ; and a peculiar facies.[hon.ch]

  • Dubowitz Syndrome

    Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.nih.gov] Low or weak muscle tone 0001252 Neuroblastoma Cancer of early nerve cells 0003006 Otitis media Middle ear infection 0000388 Pes planus Flat feet Flat foot [ more ] 0001763[rarediseases.info.nih.gov] muscles) is also a frequent finding.[symptoma.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]

  • Monosomy 1p36 Syndrome

    […] of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired[rarediseases.info.nih.gov] Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).[malacards.org] Hypotonia may also delay sitting, crawling and walking. Muscle tone often improves with age and with physical therapy.[1p36dsa.org]

  • Macrocephaly-Developmental Delay Syndrome

    A child with speech delay has speech development that is typical of a normally developing child of a younger chronologic age; the speech-delayed child's skills are acquired[aafp.org] However, young AS patients may also exhibit feeding difficulties and muscle hypotonia.[clinchem.aaccjnls.org] Cohen Syndrome Malformations of the head and facial (craniofacial) area, eye (ocular) abnormalities, diminished muscle tone (hypotonia), obesity, abnormally narrow hands and[apraxia-kids.org]

  • Deletion of the Long Arm of Chromosome 18

    In particular, vocabulary and the production of speech (expressive language skills) may be delayed.[ghr.nlm.nih.gov] The might also have seizures, low muscle tone (hypotonia), speech and language delays, obesity, and short stature.[malacards.org] In addition, Chromosome 18q- syndrome is often characterized by low muscle tone (hypotonia); sudden episodes of uncontrolled electrical activity in the brain (seizures); moderate[rarediseases.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] Of those reported cases, hypoglycemia, developmental delay, and muscle hypotonia are the most common indicated features.[mayomedicallaboratories.com] She was hospitalized once with pneumonia, once with gastrointestinal symptoms, and had speech delay.[doi.org]

  • Congenital Cataract-Hearing Loss-Severe Developmental Delay Syndrome

    A child with speech delay has speech development that is typical of a normally developing child of a younger chronologic age; the speech-delayed child's skills are acquired[aafp.org] Muscle tone vs. muscle strength The low muscle tone associated with hypotonia must not be confused with low muscle strength.[onelittlepooh.net] These problems may include migraine headaches, seizures, developmental delays, speech delays and very rarely ischemic strokes.[chw.org]

  • Hyperphosphatasia - Intellectual Disability Syndrome

    […] myelinization (in some patients), speech delay (in some patients), and no speech development (in most patients).[iofbonehealth.org] In addition to eye abnormalities, affected individuals may also have neurological abnormalities including diminished muscle tone (hypotonia), delays in speech development,[rarediseases.org] In early childhood, the diagnosis is based on substantial developmental delays, including motor, cognitive, and speech delays.[nejm.org]

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