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hypomyelinating leukodystrophy 12
ICD-10 Codes
Related ICD-10:
Description
Hypomyelinating leukodystrophy-12 (HLD12) is a rare and severe genetic disorder that affects the development of the central nervous system.
Characteristics of HLD12:
- Autosomal recessive inheritance: HLD12 is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
- Severely delayed or lack of psychomotor development: Children with HLD12 often experience severely delayed or even lack of psychomotor development, which becomes apparent in early childhood.
- Developmental delay and intellectual disability: Individuals with HLD12 may also experience developmental delay and intellectual disability.
- Increased muscle tone leading to spasticity: As the condition progresses, individuals with HLD12 may develop increased muscle tone leading to spasticity, mild ataxia, nystagmus, dysarthria, and other motor symptoms.
Clinical features:
- Early onset nystagmus
- Impaired motor development
- Ataxia
- Choreoathetoid movements
- Dysarthria
- Progressive limb weakness
Myelination defect: HLD12 is characterized by a defect in myelination, where the myelin sheath in the central nervous system is not formed properly, leading to T2 hyperintensity and other imaging abnormalities.
Please note that HLD12 is a rare condition, and more research is needed to fully understand its characteristics and implications. [1][3][4][6][8]
Additional Characteristics
- Ataxia
- Developmental delay and intellectual disability
- Dysarthria
- Autosomal recessive inheritance
- Increased muscle tone leading to spasticity
- Early onset nystagmus
- Choreoathetoid movements
- Progressive limb weakness
- Severely delayed or lack of psychomotor development
- Impaired motor development
- Myelination defect
- T2 hyperintensity
Signs and Symptoms
Based on the provided context, here are the signs and symptoms of hypomyelinating leukodystrophy:
- Developmental delay or regression (loss of previously achieved milestones) [8]
- Seizures [4][5][8]
- Changes in behavior [8]
Additionally, some sources mention other symptoms such as: * Muscle tone abnormalities [2] * Abnormal movements [2] * Increased difficulty or loss of ability to walk [2] * Trouble with speech [2] * Difficulty with coordination [4] * Progressive dementia [5] * Hallucinations [4] * Depression [4]
Please note that these symptoms may vary depending on the specific type and progression of the disease.
Additional Symptoms
- Seizures
- Hallucinations
- Abnormal movements
- Changes in behavior
- Increased difficulty or loss of ability to walk
- Trouble with speech
- Progressive dementia
- Developmental delay or regression (loss of previously achieved milestones)
- Muscle tone abnormalities
- D Difficulty with coordination
- depression
Diagnostic Tests
Diagnostic Tests for Hypomyelinating Leukodystrophy
Hypomyelinating leukodystrophies are a group of rare genetic disorders that affect the myelin sheath, leading to progressive damage to the brain and spinal cord. Diagnosing these conditions can be challenging, but various tests can help confirm the diagnosis.
Imaging Tests: Imaging exams such as MRI or CT scans are often used to check for white matter abnormalities in the brain and spinal cord [2]. These tests can show characteristic changes in the brain's white matter, which may suggest a hypomyelinating leukodystrophy.
Genetic Testing: Genetic testing is essential for diagnosing hypomyelinating leukodystrophies. A 118 gene panel that includes assessment of non-coding variants can be used to identify genetic mutations associated with these conditions [8]. This test can also include the maternally inherited mitochondrial genome.
Blood Tests: Blood tests may be performed to rule out other conditions and to assess hormone levels, such as thyroid, growth, and puberty hormones [6].
Diagnostic Process: The diagnostic process for hypomyelinating leukodystrophies begins with a thorough patient history and a comprehensive general and neurological examination [4]. Additional tests, including imaging exams, blood work, and genetic testing, may be recommended to confirm the diagnosis.
It's essential to note that diagnosing adult hypomyelinating leukodystrophies remains complex and challenging [7]. Clinicians and radiologists should recognize MRI white matter involvement as a key indicator of these conditions.
Additional Diagnostic Tests
- Blood Tests
- Imaging Tests (MRI or CT scans)
- Genetic Testing (118 gene panel)
- Comprehensive General and Neurological Examination
Treatment
Current Treatment Options for Hypomyelinating Leukodystrophy
Hypomyelinating leukodystrophies are a group of rare genetic disorders that affect the development and maintenance of myelin, the fatty substance that surrounds and protects nerve fibers. While there is no cure for these conditions, various treatment options can help manage symptoms and slow disease progression.
- Supportive Care: Current treatment focuses on preventing complications, managing symptoms, and providing supportive care to improve quality of life (5).
- Gene Therapy: Research has shown promise in the development of gene therapy as a potential treatment for hypomyelinating leukodystrophies. Gene therapy involves replacing or repairing faulty genes that cause the condition (8).
- Chenodeoxycholic Acid Replacement Therapy: In some cases, early diagnosis and treatment with chenodeoxycholic acid replacement therapy can be effective in treating one type of leukodystrophy called CTX (7).
Emerging Therapies
Recent advancements have led to the approval of new treatments for hypomyelinating leukodystrophies. For example:
- Lenmeldy: The US FDA has approved Lenmeldy, a gene therapy indicated for the treatment of children with hypomyelinating leukodystrophy (4).
- Atidarsagene Autotemcel: This medicine was designated as an orphan medicine for the treatment of hypomyelinating leukodystrophy-18 in the European Union (6).
Future Directions
While these emerging therapies hold promise, more research is needed to fully understand their efficacy and potential side effects. Ongoing clinical trials are investigating various treatments, including gene therapy, to improve outcomes for patients with hypomyelinating leukodystrophies (8).
References:
[7] - Early diagnosis and treatment of CTX can be effective in treating one type of leukodystrophy called CTX. [5] - Current treatment focuses on preventing complications, managing symptoms, and providing supportive care to improve quality of life. [6] - Atidarsagene Autotemcel was designated as an orphan medicine for the treatment of hypomyelinating leukodystrophy-18 in the European Union. [4] - Lenmeldy is a gene therapy approved by the US FDA for the treatment of children with hypomyelinating leukodystrophy. [8] - Gene therapy clinical trials are ongoing to investigate various treatments for hypomyelinating leukodystrophies.
Recommended Medications
- Gene Therapy
- Supportive Care
- Chenodeoxycholic Acid Replacement Therapy
- Lenmeldy
- Atidarsagene Autotemcel
💊 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 Hypomyelinating Leukodystrophy
Hypomyelinating leukodystrophies (HLDs) are a group of disorders that can be identified by abnormal, reduced or absent myelin development. When diagnosing HLDs, it's essential to consider differential diagnoses to rule out other conditions with similar symptoms.
Other Hypomyelinating Leukodystrophies
One of the key differential diagnoses for HLDs is other hypomyelinating leukodystrophies, especially when there are no typical dental or skeletal abnormalities. These disorders can be identified by abnormal myelin development and impaired motor ability (1).
Pelizaeus-Merzbacher Disease (PMD)
Another condition that should be considered in the differential diagnosis of HLDs is Pelizaeus-Merzbacher disease (PMD). PMD is a rare, genetic disorder characterized by a deficiency in myelin development, leading to impaired motor function and cognitive decline (2).
Allan-Herndon-Dudley Syndrome
Allan-Herndon-Dudley syndrome (AHDS) is another condition that should be considered in the differential diagnosis of HLDs. AHDS is a rare, X-linked disorder characterized by hypomyelination, intellectual disability, and spasticity (3).
Other Conditions
In addition to other hypomyelinating leukodystrophies, PMD, and AHDS, other conditions such as Pelizaeus-Merzbacher-like disease and megalencephalic leukodystrophy with subcortical cysts should also be considered in the differential diagnosis of HLDs (4).
Genetic Testing
Diagnosis of HLDs is confirmed by genetic testing. This can help rule out other conditions and confirm the presence of a specific genetic mutation associated with HLDs.
References:
(1) [3] (2) [4] (3) [5] (4) [6] (5) [7] (6) [8]
Additional Differential Diagnoses
- Other hypomyelinating leukodystrophies
- Megalencephalic leukodystrophy with subcortical cysts
- Allan-Herndon-Dudley syndrome
- disease
- Pelizaeus-Merzbacher disease
Additional Information
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- rdf-schema#label
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- IAO_0000115
- A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.
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