A missense mutation within this domain has already been reported in a patient who presented with JS ( 3 ). [jasn.asnjournals.org]

Clinical presentation Most individuals with Joubert syndrome present with hypotonia (decreased muscle tone) in infancy, which progresses to ataxia (lack of muscle control during voluntary movements) in early childhood. [news-medical.net]

The fact that most present day inhabitants of the Lower St. Lawrence region descend from this small group of settlers suggests a genetic founder effects. [sciencedaily.com]

In a minority of cases minor lateral ventriculomegaly (6 - 20% of cases), and corpus callosal dysgenesis (6-10% of cases) is also present 5,9. [radiopaedia.org]

A series of clinical photographs and a brief case report offer insight into the classic presentation of this uncommon disorder. [medscape.com]

• Abnormal Eye Movement

  Joubert syndrome is a rare genetic disorder characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing patterns and intellectual disability. [jsrdf.org]

  Joubert syndrome is a rare autosomal recessive disorder characterized by abnormal respiratory pattern and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem. [indianpediatrics.net]

  Presentation Onset is in early infancy with abnormally rapid breathing, jerky eye movements, mental retardation, hemifacial spasms, seizures and ataxia: Eyes: abnormal eye movements, chorioretinal coloboma, ptosis, and retinal dysplasia. [patient.info]

  eye movements persist • Diminished hyperpnea and apnea Fennel et al, [8] 1999 Follow-up (n = 40) Not reported Range of deficits Range of deficits • Parents described children as severely impaired • Problems with temperament, hyperactivity, aggressiveness [medscape.com]

  Other characteristic features of the condition include episodes of unusually fast (hyperpnea) or slow (apnea) breathing in infancy, and abnormal eye movements (ocular motor apraxia). [medlineplus.gov]

Treatment Treatment Options: Treatment is mostly for specific symptoms such as respiratory distress, renal disease, speech and physical therapy, low vision, and hepatic failure. [disorders.eyes.arizona.edu]

Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions . [patient.info]

Treatment and prognosis Not an overwhelming amount of data is available on the long term outcome of children with Joubert syndrome. Persistent neuromotor developmental retardation is a feature of surviving individuals. [radiopaedia.org]

Standard Therapies Treatment The treatment for Joubert syndrome is symptomatic and supportive. Developmental delays are usually treated with physical therapy, occupational therapy, speech therapy and infant stimulation. [rarediseases.org]

Management of the condition and prognosis Treatment for Joubert syndrome is mainly symptomatic and supportive, and must be individualized for each child’s unique needs. [news-medical.net]

Patients with associated retinal dysplasia appear to have a poorer prognosis 5. [radiopaedia.org]

Management of the condition and prognosis Treatment for Joubert syndrome is mainly symptomatic and supportive, and must be individualized for each child’s unique needs. [news-medical.net]

Prognosis This depends on the degree of malformation or agenesis of the cerebellar vermis. Some will have a mild form with mild physical disability and good mental development. [patient.info]

Since the prognosis of JS could be poor, prenatal diagnosis is necessary for the families with history of JS. The proband’s parents have sought genetic counseling in our center, and prenatal diagnosis of a subsequent pregnancy was performed. [hindawi.com]

Prognosis of this disease is usually poor with hypotonia and severe developmental delay. Contributors: RS designed the paper and prepared the manuscript. AKJ was the overall co-ordinator and guide; he will act as the guarantor for this paper. [indianpediatrics.net]

The cerebellum is the part of the brain that controls balance and coordination; the cerebellar vermis is involved with posture and rhythmic modulation of stereotypical movements, such as walking. [15–17] Although the precise etiology of Joubert syndrome [medscape.com]

[…] syndrome is a rare autosomal recessive condition characterised by partial or complete absence of the cerebellar vermis, leading to neonatal breathing abnormalities, jerky eye movements, hypotonia, ataxia, impaired equilibrium, and mental handicap. [ 2 ] Epidemiology [patient.info]

Their classification, genetic features and pathophysiology] Rev Neurol. 2005 Oct 1-15 Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. [patient.info]

Speech: While children with Joubert may appear to understand what is said to them, neurological impairments might prevent them from being able to use words in order to communicate. [disabled-world.com]

[provided by RefSeq, Sep 2009] Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. [genecards.org]

Speech Although he seems to understand what is said to him, Joey’s neurological impairments prevent him from being able to use words to communicate. [allaboutjoey.com]