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

Joubert syndrome with hepatic disease is characterized by progressive hepatic fibrosis already presenting at birth. [centogene.com]

In addition, strabismus is not uncommon and presents as either horizontal or vertical misalignment. [dovepress.com]

MRI Findings and Eye Movements Subject Vermis Deep Cerebellar Nuclei Flocculus Pons Smooth Pursuit Saccade HOKN VOR 1 Hypoplastic (severe) Region abnormal Present bilaterally Normal + + + + 2 Hypoplastic (severe) Region abnormal Present bilaterally Normal [iovs.arvojournals.org]

Patients with these malformations present a higher incidence of epilepsy, which is otherwise a rare feature of JSRD [ 32, 39 ]. Finally, a small number of cases present with occipital (meningo) encephalocele of variable severity [ 1, 34, 41 ]. [ojrd.biomedcentral.com]

• Developmental Delay

  The neurological features of JSRD include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. [ncbi.nlm.nih.gov]

  Developmental delays may be treated with: Infant stimulation. Occupational therapy. Physical therapy. Speech therapy. [my.clevelandclinic.org]

  delay and multiple congenital anomalies. [centogene.com]

  Discussion The incidence of JS has been estimated to be between 1/80,000 and 1/100,000 live births. 8 The cardinal neurological features of JS are hypotonia that evolves into ataxia and developmental delay. [dovepress.com]

• Hyperpnea

  A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. 1969;19:813–825. 2. Boltshauser E, Isler W. [dovepress.com]

  Historical note and terminology In 1969, Marie Joubert and colleagues reported a previously undescribed syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation associated with agenesis of the cerebellar vermis ( Joubert et al 1999 [medlink.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]

  The most common features of Joubert syndrome are lack of muscle control (ataxia), abnormal breathing patterns (hyperpnea), sleep apnea, abnormal eye and tongue movements and low muscle tone. [rarediseases.org]

  The typical respiratory abnormalities are represented by short alternate episodes of apnea and hyperpnea or episodic hyperpnea alone, which tend to occur shortly after birth, intensify with emotional stress and progressively improve with age, usually [ojrd.biomedcentral.com]

• Hypertension

  Clinical findings include enlarged, abnormally shaped liver and portal hypertension resulting in splenomegaly, hypersplenism, and gastroesophageal varices. [centogene.com]

  If CHF is diagnosed, specific follow-up should be planned to manage possible complications, including portal hypertension and esophageal varices. Prognosis Soon after birth, prognosis is related to the extent and severity of breathing dysregulation. [ojrd.biomedcentral.com]

• Hepatomegaly

  Abdominal ultrasound will explore the kidneys (to detect small cysts and loss of corticomedullar differentiation, suggestive of NPH), and the liver (to identify hepatomegaly or structural abnormalities that could underlie CHF). [ojrd.biomedcentral.com]

• Hyperactivity

  These problems often emerge in temperament, hyperactivity, and aggressiveness. Careful examination of the face, especially in infancy, shows a characteristic appearance. [rehabpub.com]

• Global Developmental Delay

  Several children with features of Joubert's syndrome and LCA have been described, with presenting symptoms of panting tachypnea in the newborn, prolonged apneic attacks in the neonatal period, global developmental delay, and failure to develop vision. [centogene.com]

• Tremor

  In some cases, tremor has been reported [ 20 ]. [ojrd.biomedcentral.com]

In In this article, the author gives an update of the diagnostic workup, refers to other cerebello-oculo-renal syndromes, and summarizes the actual knowledge about molecular genetics. [medlink.com]

Management and Treatment Is there a cure for Joubert syndrome? There is no cure for Joubert syndrome. But your healthcare providers may recommend treatments to reduce symptoms and improve quality of life. [my.clevelandclinic.org]

Investigational Therapies Precision treatments are treatments specifically targeting the genetic cause or biological mechanism of a disorder. [rarediseases.org]

Young Parents Want ‘Something More’ for Daughter with Joubert Syndrome Management of the condition and prognosis Treatment for Joubert syndrome is mainly symptomatic and supportive; thus, each treatment plan must be individualized for each child’s unique [news-medical.net]

Patients with JS need a multidisciplinary approach and a clinical and laboratory follow up to assess a multiorgan involvement and to identify hormone deficiency and, when it’s possible, to estabilish a treatment. [adc.bmj.com]

Treatment for the syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored. [rehabpub.com]

The prognosis for infants with this syndrome depends on whether or not the cerebellar vermis is partially developed or completely absent, as well as on the severity of other organ involvement. [news-medical.net]

After the first months of life, global prognosis varies considerably among JSRD subgroups, depending on the extent and severity of organ involvement. [ncbi.nlm.nih.gov]

Outlook / Prognosis What is the outlook for people with Joubert syndrome? The outlook for babies and children with Joubert syndrome depends on whether the cerebellar vermis is partially developed or completely absent. [my.clevelandclinic.org]

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]

[…] evaluations to identify the extent of disease are recommended by a consensus panel: Examination of high-quality MRI scan (if not done at the time of diagnosis) to assess for cerebral malformations and other brain abnormalities that may indicate a poorer prognosis [rarediseases.org]

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]

Prevention Can I prevent Joubert syndrome? There is no way to prevent Joubert syndrome. But geneticists and genetic counselors can help determine who in your family may be at risk. [my.clevelandclinic.org]