Symptoma

Joubert Syndrome Type 6

Joubert Syndrome 6

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]

  • Polydipsia

    Diagnostic criteria of nephronophthisis were ( 1 ) a history of polyuria and polydipsia with a progressive decline in kidney function leading to ESRD within the expected age range and ( 2 ) histology or renal ultrasound compatible with nephronophthisis [jasn.asnjournals.org]

  • Eye Movements Abnormal

    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]

    Weiss AH, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO: Eye movement Abnormalities in Joubert Syndrome. Invest Ophthalmol Vis Sci. 2009, 50: 4669-4677. 10.1167/iovs.08-3299. 24. [ojrd.biomedcentral.com]

  • Suggestibility

    Moreover, inter- or intrafamilial variability is observed in these patients, suggesting a more complex mechanism of inheritance ( 43, 44 ). [jasn.asnjournals.org]

    Clinical Utility: Prenatal imaging findings suggestive of JSRD including molar tooth sign, other structural brain malformations, encephalopcele, renal disease, polydactyl, and cleft/lip palate Lab Method: Next-Gen Sequencing Deletion/Duplication Analysis [genedx.com]

    Lawrence region descend from this small group of settlers suggests a genetic founder effects. Indeed, certain founder mutations are transmitted to a large number of descendants, which increases the risk of genetic diseases in offspring. [sciencedaily.com]

    This represents the only pattern suggesting the classification of patients with JSRD based on neuroimaging that has clinical and prognostic significance. [ajnr.org]

    Enrico Bertini and Andrea Rossi for their helpful suggestions and Sheila Pierce for her assistance in writing the manuscript. [ojrd.biomedcentral.com]

  • Abnormal Coordination

    Joubert Syndrome is a condition that affects brain development and manifests itself through delayed psychomotor development, abnormal coordination of eye movements and respiratory abnormalities. Since Dr. [sciencedaily.com]

  • Polyuria

    Diagnostic criteria of nephronophthisis were ( 1 ) a history of polyuria and polydipsia with a progressive decline in kidney function leading to ESRD within the expected age range and ( 2 ) histology or renal ultrasound compatible with nephronophthisis [jasn.asnjournals.org]

    Juvenile NPH may remain asymptomatic for several years or present with subtle and often unrecognized signs such as polyuria and polydypsia, until acute or chronic renal insufficiency manifests in the late first or early second decade of life. [ojrd.biomedcentral.com]

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]

Prognosis Soon after birth, prognosis is related to the extent and severity of breathing dysregulation. In particular, recurrent episodes of prolonged apneas can be life-threatening and require assisted ventilation. [ojrd.biomedcentral.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]

Epidemiology Although the incidence of JSRD has not been precisely determined, it may range between 1/80,000 and 1/100,000 live births, but may be underestimated [ 16, 17 ]. [ojrd.biomedcentral.com]

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]

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]