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leukoencephalopathy with vanishing white matter 3
Description
Leukoencephalopathy with Vanishing White Matter (VWM) Description
Leukoencephalopathy with vanishing white matter, also known as VWM disease, is an autosomal recessive neurological disease. The cause of the disease are mutations in any one of several genes that code for proteins involved in DNA repair and replication.
Key Features:
- Autosomal recessive inheritance pattern
- Mutations in genes involved in DNA repair and replication
- Variable neurologic features
The symptoms of VWM can vary widely among affected individuals, but common features include:
- Low muscle tone
- Seizures
- Vomiting
- Rapid breathing
- Regression of milestones
- Loss of vision
- Lack of coordination and balance (ataxia)
Progression:
VWM is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). The disease typically begins in childhood, but can also occur later in life. As the disease progresses, affected individuals may experience worsening symptoms, including increased weakness, seizures, and loss of coordination.
Note: This information is based on search results [3] and [6].
Additional Characteristics
- Vomiting
- Seizures
- Rapid breathing
- Low muscle tone
- Variable neurologic features
- Autosomal recessive neurological disease
- Mutations in genes involved in DNA repair and replication
- Regression of milestones
- Loss of vision
- Lack of coordination and balance (ataxia)
- Progressive disorder affecting brain and spinal cord
- Worsening symptoms including increased weakness, seizures, and loss of coordination
Signs and Symptoms
Common Signs and Symptoms
Leukoencephalopathy with vanishing white matter (VWM disease) is characterized by a range of neurological symptoms, which can vary in severity and progression. The following are some common signs and symptoms associated with VWM disease:
- Abnormal body and muscle tone: Affected individuals may experience low muscle tone or stiffness, leading to difficulties with movement and balance.
- Abnormal movements: People with VWM disease may exhibit abnormal movements, such as tremors, seizures, or difficulty with coordination.
- Increased difficulty or loss of ability to walk: As the disease progresses, affected individuals may experience a decline in motor skills, making it challenging to walk or maintain balance.
- Trouble with speech: Some people with VWM disease may experience difficulties with speech, including slurred words or loss of language abilities.
- Difficulty with swallowing: Affected individuals may have trouble swallowing due to muscle weakness or coordination issues.
These symptoms can start in childhood or early adulthood and worsen over time. It's essential to note that the progression and severity of VWM disease can vary significantly from person to person.
References:
- [7] Signs and symptoms · Abnormal body and muscle tone · Abnormal movements · Increased difficulty or loss of ability to walk · Trouble with speech · Difficulty with ...
- [8] Chronic neurological deterioration, mainly with loss of motor skills · Febrile episodes (episodes of fever) can be associated with worsening of symptoms, ...
Additional Symptoms
- Difficulty with swallowing
- Abnormal movements
- Abnormal body and muscle tone
- Increased difficulty or loss of ability to walk
- Trouble with speech
Diagnostic Tests
Diagnostic Tests for Leukoencephalopathy with Vanishing White Matter
Leukoencephalopathy with vanishing white matter (VWM) can be diagnosed through a combination of clinical and molecular genetic tests. The diagnostic process typically involves the following steps:
- Clinical Evaluation: A thorough medical history and physical examination are conducted to identify symptoms such as progressive neurological decline, seizures, and visual disturbances [1].
- MRI of the Brain: Magnetic Resonance Imaging (MRI) is used to visualize the brain's white matter. Characteristic features include cystic degeneration of the cerebral white matter and gray matter involvement [8]. The MRI protocol and criteria for diagnosing VWM have been proposed by van der Knaap et al. in 1998 [9].
- Genetic Testing: Molecular genetic tests are used to confirm the diagnosis of VWM. These tests can identify mutations in the EIF2B genes, which are associated with the disease [2].
- Laboratory Testing: Laboratory tests may be conducted to rule out other conditions that may present with similar symptoms.
It's worth noting that diagnosing adult leukodystrophies, including VWM, remains complex and challenging. Clinicians and radiologists should recognize MRI white matter involvement as a key diagnostic feature [5].
References: [1] Context 2 [2] Context 2 [5] Context 5 [8] Context 8 [9] Context 9
Additional Diagnostic Tests
- Clinical Evaluation
- Genetic Testing
- Laboratory Testing
- MRI of the Brain
Treatment
Current Drug Treatments for Leukoencephalopathy with Vanishing White Matter (VWM)
While there is currently no cure for VWM, research has led to the identification of promising therapies. According to recent studies [1][2], advances in understanding the pathophysiology of VWM have resulted in the exploration of potential treatments.
- Medications: Treatment options may include medications to manage symptoms such as seizures, muscle tightness, and movement problems [3].
- Nutritional Therapy: Nutritional support or feeding tubes may be necessary for individuals with difficulty eating and swallowing [4].
It is essential to note that these treatments are not specifically approved for VWM. However, they may help alleviate some of the symptoms associated with this condition.
References:
[1] by DH Schoenmakers · 2023 · Cited by 2 — Currently, VWM has no approved treatments, but advances in understanding pathophysiology have led to identification of promising therapies. [2] by MS van der Knaap · 2022 · Cited by 19 — Guanabenz is an old, Food and Drug Administration (FDA)-approved α2-adrenergic antihypertensive drug. Sephin1 has FDA orphan drug designation ... [3] by DH Schoenmakers · 2023 · Cited by 2 — Currently, VWM has no approved treatments, but advances in understanding pathophysiology have led to identification of promising therapies. [4] May 1, 2013 — Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system).
Recommended Medications
- Medications
- Nutritional Therapy
- Sephin1
- Guanabenz
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Leukoencephalopathy with Vanishing White Matter
Leukoencephalopathy with vanishing white matter (VWM) is a rare and severe neurological disorder. When considering the differential diagnosis for VWM, several conditions must be taken into account.
- Mitochondrial leukoencephalopathies: These are a group of disorders caused by mutations in mitochondrial DNA, which can lead to progressive damage to the white matter of the brain (7).
- Alexander's disease: This is a rare and severe form of leukodystrophy that affects both children and adults. It is characterized by the accumulation of abnormal proteins in the brain, leading to progressive damage to the white matter (8).
Other conditions that may be considered in the differential diagnosis for VWM include:
- Childhood ataxia with central nervous system hypomyelination: This is a rare disorder that affects children and is characterized by ataxia, spasticity, and other neurological symptoms (6).
- Primary progressive multiple sclerosis: In some cases, VWM may be mistaken for primary progressive multiple sclerosis, particularly in adults. However, this diagnosis can usually be ruled out through further testing and evaluation (10).
It's worth noting that the differential diagnosis for VWM is extensive and requires a comprehensive evaluation of the patient's medical history, physical examination, laboratory tests, and imaging studies.
References:
- [7] Gui M. The differential diagnosis for leukoencephalopathy is extensive, encompassing conditions such as mitochondrial leukoencephalopathies...
- [8] The differential diagnosis, which is primarily based on the MRI pattern, must consider the spectrum of early onset leukodystrophy, including Alexander's disease...
- [10] Adult-onset vanishing white matter disease as differential diagnosis of primary progressive multiple sclerosis: a case report.
Additional Differential Diagnoses
- Mitochondrial leukoencephalopathies
- Childhood ataxia with central nervous system hypomyelination
- primary progressive multiple sclerosis
- disease
Additional Information
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- IAO_0000115
- A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34.
- rdf-schema#label
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- t349964
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