Joubert syndrome

Autosomal recessive - en

Joubert syndrome is a rare genetic disorder characterized by the underdevelopment of the cerebellar vermis, a part of the brain that controls balance and coordination. This condition is part of a group of disorders known as ciliopathies, which are caused by defects in the function of cellular structures called cilia.

Signs and Symptoms

Individuals with Joubert syndrome typically present with a range of symptoms, including:

• Hypotonia (low muscle tone)
• Ataxia (lack of muscle coordination)
• Developmental delays
• Abnormal eye movements, such as nystagmus
• Breathing abnormalities, including episodes of rapid breathing (hyperpnea) and apnea

Genetics

Joubert syndrome is genetically heterogeneous, meaning it can be caused by mutations in several different genes. Some of the genes associated with Joubert syndrome include:

• AHI1
• CEP290
• TMEM67
• CC2D2A

These genes are involved in the function and structure of cilia, which are essential for various cellular processes.

Diagnosis

The diagnosis of Joubert syndrome is based on clinical features and neuroimaging findings. A key diagnostic feature is the "molar tooth sign" observed on MRI scans, which results from the abnormal development of the cerebellar vermis and brainstem.

Management

There is no cure for Joubert syndrome, and treatment is primarily supportive and symptomatic. Management strategies may include:

• Physical therapy to improve motor skills and coordination
• Occupational therapy to assist with daily activities
• Speech therapy to address communication difficulties
• Regular monitoring and management of breathing abnormalities

Prognosis

The prognosis for individuals with Joubert syndrome varies widely depending on the severity of symptoms and the presence of associated conditions. Some individuals may have mild symptoms and lead relatively normal lives, while others may have significant developmental and physical challenges.

Related Pages

• Cerebellar vermis
• Ciliopathy
• Hypotonia
• Ataxia
• Nystagmus
• MRI

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