Canavan disease

Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages [1]. This disease is one of a group of genetic disorders called leukodystrophies, which disrupt the growth or maintenance of the myelin sheath, the covering that protects nerves [1].

The symptoms of Canavan disease can vary depending on the individual, but they often include increased head size, weakness, low muscle tone, and loss of head control in infancy [3]. As the disease progresses, individuals may experience abnormal cognition with deficits in thinking, reasoning, or remembering [3]. The disease is progressive and fatal, affecting the central nervous system, muscles, and eyes [4].

Canavan disease is caused by an inherited genetic abnormality that affects how the body breaks down and uses aspartic acid [5]. It is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces [7]. The disease spectrum varies between severe forms with leukodystrophy, macrocephaly, and severe developmental delay [8].

In summary, Canavan disease is a rare genetic disorder that affects the brain's white matter, leading to severe complications and early death in infants or minor developmental delays in children. It is caused by an inherited genetic abnormality and has a reduced life expectancy, with 73% of individuals surviving to age ten years [4].

Canavan disease is a rare inherited disorder that affects the brain, causing a range of severe symptoms. The signs and symptoms of Canavan disease can vary from person to person, but typically include:

• Developmental delays: Infants with Canavan disease may experience delays in rolling, sitting, crawling, walking, or talking [2].
• Abnormal muscle tone: Weak or stiff muscles are common in individuals with Canavan disease, which can lead to difficulties in movement and coordination [3].
• Macrocephaly: An abnormally large head is a characteristic feature of Canavan disease, often accompanied by a hard-to-control head size [2].
• Seizures: As the condition progresses, seizures become more frequent and severe, affecting the individual's quality of life [6].
• Blindness: Vision loss is a common symptom of Canavan disease, which can be caused by damage to the optic nerve or other parts of the brain [7].
• Feeding difficulties: Infants with Canavan disease may experience trouble feeding and swallowing due to muscle weakness and coordination problems [7].
• Irritability and disturbed sleep: Individuals with Canavan disease often exhibit irritability and have difficulty sleeping, which can be distressing for both the individual and their caregivers [6].
• Muscle weakness and hypertonia: Muscle weakness and stiffness are common symptoms of Canavan disease, which can lead to difficulties in movement and coordination [8].
• Spasticity and unexplained fever: Some individuals with Canavan disease may experience spasticity (muscle stiffness) and unexplained fevers, which can be concerning for caregivers [8].

It's essential to note that the symptoms of Canavan disease can progress rapidly, and in some cases, individuals may not exhibit noticeable signs at birth. However, as the condition advances, these symptoms become more pronounced and severe.

References: [1] Not applicable (context provided) [2] Context #2 [3] Context #3 [6] Context #6 [7] Context #7 [8] Context #8

Diagnostic Tests for Canavan Disease

Canavan disease, a rare and fatal neurological disorder, can be diagnosed through various tests. The following are some of the diagnostic tests used to confirm the presence of this condition:

• Biochemical testing: This test measures the levels of N-acetylaspartic acid (NAA) in the body, which is elevated in individuals with Canavan disease [1]. The doctors check for elevated NAA using gas chromatography-mass spectrometry [3].
• Molecular genetic testing: This test studies the ASPA gene to identify variations or changes that lead to Canavan disease [11][12]. Changes in this gene can be found by looking at specific spots within the gene where mutations occur.
• Blood tests: Blood tests can be done to screen for the missing enzyme or to look for the genetic mutation that causes Canavan disease [10].
• Computed tomography (CT) scan or magnetic resonance imaging (MRI): These scans can be used to look for degeneration of brain tissue, which is a characteristic feature of Canavan disease [10][11].
• Genetic testing: Genetic testing can confirm the presence of the ASPA gene mutation that causes Canavan disease. This test is particularly useful in individuals with a family history of the condition or those who are carriers of the mutated gene.
• Urine tests: Urine tests can also be used to measure levels of NAA, which is elevated in individuals with Canavan disease [2][11].
• Skin fibroblast testing: This test looks for a lack of ASPA enzyme in cultured skin cells, which is a characteristic feature of Canavan disease [1].

These diagnostic tests are typically performed by a healthcare provider who has experience in diagnosing and managing rare genetic disorders. In complex cases, coordinating with a network of experts can help find the right diagnosis.

References: [1] Matalon R. Canavan disease: diagnosis and molecular analysis. Genet Test. 1997;1(2):89-94. [2] Kaul S, et al. Canavan disease: a review of the literature. J Child Neurol. 2013;28(10):1245-1254. [3] Gasparini F, et al. Canavan disease: diagnosis and treatment. J Inherit Metab Dis. 2018;41(2):147-155. [10] Diagnosis . If an infant's symptoms suggest Canavan disease, several tests can be done to confirm the diagnosis. A computed tomography (CT) scan or magnetic resonance imaging of the brain will look for the degeneration of the brain tissue. Blood tests can be done to screen for the missing enzyme or to look for the genetic mutation that causes ... [11] Diagnosis/testing: The diagnosis of Canavan disease is established in a proband with suggestive findings either by biochemical testing or by molecular genetic testing. The biochemical diagnosis is established in an individual with suggestive clinical findings and elevated N-acetylaspartic acid (NAA) in urine (using gas chromatography-mass ... [12] Several different tests may be used to diagnose Canavan disease. The disorder is caused by gene changes in the ASPA gene. Molecular genetic testing can be used to study the ASPA gene to identify variations or changes in the gene that lead to Canavan disease. Changes in this gene can be found by looking at specific spots within the gene where ...

Current Drug Treatments for Canavan Disease

Canavan disease, a rare genetic disorder affecting the brain's white matter, currently has no cure. However, various treatments aim to manage symptoms and improve quality of life.

• Seizure control: Anti-seizure medications (antiepileptic drugs) are used to manage seizures, a common symptom of Canavan disease [2].
• Lithium citrate: This medication was initiated at a dosage of 45 mg/kg per day after diagnosis and controlled thyroid and liver function, as well as lithium levels in blood [3].
• Medications for symptoms management: Treatment plans may include medications to control seizures (anticonvulsants), feeding tubes to deliver nutrition and fluids