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Generalized hypotonia
- ... K, Satomura K. New MCA/MR syndrome with generalized hypotonia, congenital hydronephrosis, and characteristic face. Am J Med ...
- ... walking). Many affected individuals have low muscle tone (hypotonia) and develop recurrent seizures (epilepsy) in early childhood. Seizures are usually the generalized tonic-clonic type, which involve muscle rigidity, convulsions, ...
- ... life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side of the brain (focal seizures). Some affected individuals also have weak muscle tone (hypotonia), loss of fine motor skills such as using ...
- ... with PCH1 also have very weak muscle tone (hypotonia), joint deformities called ... (generalized clonus) in early infancy, abnormal patterns of movement ...
- ... Other types of seizures can develop, such as generalized tonic-clonic seizures, which involve loss of consciousness, ... PURA-related neurodevelopmental disorder PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Genetic Testing Registry: PURA-related ...
- Skin Pigmentation Disorders/Specifics ... Skin Pigmentation Disorders ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find ...
- Genetic Disorders/Specifics ... Genetic Disorders ... Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic and Rare Diseases Information Center ...
- ... being silenced. Other affected individuals have a more generalized impairment of gene silencing involving many imprinted regions, ...
- ... spread throughout the brain are known as secondarily generalized seizures.Initially, the seizures associated with MMPSI are ... their head movement. Many have weak muscle tone (hypotonia) and become "floppy." If seizures can be controlled ...
- Muscle Disorders/Specifics ... Muscle Disorders ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Neuromuscular Disorders/Specifics ... Neuromuscular ...