Male, age 13, with a history of seizures, involuntary muscle contractions (dystonia), irregular and involuntary jerky movements on one side of the body (hemiballismus), difficulty walking (gait disturbance), and brain imaging abnormalities caused by a change in the EIF2AK2 gene
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Male, age 7, with global developmental delay, muscle weakness, hand tremor, increased tone in lower limbs (hypertonia), and facial differences caused by a change in the ZNF865 gene.
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Male, age 4, with global developmental delay, low muscle tone of the trunk (hypotonia), seizures, a history of clubbed feet (bilateral talipes equinovarus), and head turned persistently to the right (torticollis)
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Female, age 4, with seizure-like episodes, laryngeal cleft, difficulty swallowing (dysphagia), events of low blood sugar (recurrent hypoglycemia), and an abnormal brain MRI caused by a change in the MBD5 gene.
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Female, age 5 with seizures (tonic seizures and spasms) that are resistant to treatment (refractory), global developmental delay, autism, and intermittent problems with coordination (gait ataxia)
Male, age 4, with seizures (bilateral tonic-clonic with generalized onset, focal impaired awareness seizure), involuntary muscle contractions (dystonia), global developmental delay, and upbeat nystagmus
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Female, age 14, with severe epileptic encephalopathy, global developmental delay, and a clumsy, broad-based gait
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Female, age 9, with severe global developmental delay, muscle tone abnormalities (hypotonia of the trunk, hypertonia of wrists and ankles), tightened muscles and tremor of lower extremities (spasticity), brain abnormalities (cerebellar atrophy, periventricular white matter hyperdensities), and cerebral folate deficiency (decreased CSF 5-methyltetrahydrofolate concentration) caused by a change in the SPTSSA gene
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Male, age 25, with absent shoulder muscles (congenital bilateral absence of deltoid muscles), underdeveloped bicep tendons, developmental delay, joint hyper-mobility, and skeletal abnormalities caused by a change in the CDH2 gene
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Male, age 6, with global developmental delay, problems with coordination (ataxia) and repetitive, uncontrolled eye movements (downbeat nystagmus) caused by a change in the DAGLA gene
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