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Abnormal muscle tone
- ... individuals with Vici syndrome. Affected infants have weak muscle tone (hypotonia). Generally, children with Vici syndrome are not ... cleft palate) or other unusual facial features; and abnormal function of the thyroid, liver, or kidneys. Many ...
- ... systems. Individuals with this condition typically have weak muscle tone (hypotonia), intellectual disability, and delayed development. Speech is ... Some people with Au-Kline syndrome have an abnormal curvature of the spine (scoliosis). In addition, affected ...
- ... developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed speech. Some people ... second and third toes (syndactyly), and small or abnormal toenails. Some affected individuals have rapid (accelerated) growth. ...
- ... Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, ... and protein production in the brain lead to abnormal nerve cell (neuronal) function. These neuronal changes disrupt ...
- ... STAC3 disorder have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body that typically begins at ... deformities that restrict movement (contractures) or develop an abnormal side-to-side or back-to-front curvature ...
- ... infants may have severe muscle weakness, lack of muscle tone (hypotonia), little spontaneous movement, and joint deformities (contractures). ... As affected children grow, they often develop an abnormal, gradually worsening side-to-side curvature of the ...
- ... this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth. When ... development and can lead to fragile bones, an abnormal curvature of the spine (scoliosis), and joint deformities ( ...
- ... cataplexy, which is a sudden brief loss of muscle tone in response to strong emotion (such as excitement, ... As a result of these mutations, methylation is abnormal, which affects the expression of multiple genes. Maintenance ...
- ... infants can have poor head control and weak muscle tone (hypotonia), which may delay the development of motor ... side to side. Affected children eventually develop an abnormal curvature of the spine (scoliosis). In some people ...
- ... head (microcephaly). Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are ... be particularly vulnerable to damage caused by the abnormal cell materials. Early and widespread loss of nerve ...
