4 free views remaining today
obsolete hereditary central nervous system demyelinating disease
ICD-10 Codes
Related ICD-10:
Description
Hereditary Central Nervous System Demyelinating Diseases
Hereditary CNS demyelinating diseases are a group of rare conditions that affect the myelin sheath surrounding nerve cells in the brain and spinal cord. These diseases are caused by inherited genetic mutations, leading to damage or loss of myelin, which is essential for proper nerve function.
Characteristics
- Inherited: Hereditary CNS demyelinating diseases are passed down from parents to offspring through genetic inheritance.
- Rare: These conditions are relatively rare and affect a small percentage of the population.
- Central Nervous System (CNS) involvement: The diseases primarily affect the brain and spinal cord, leading to damage or loss of myelin.
Examples
- Some examples of hereditary CNS demyelinating diseases include:
- Pelizaeus-Merzbacher disease
- Adrenoleukodystrophy
- Krabbe disease
Symptoms
The symptoms of hereditary CNS demyelinating diseases can vary depending on the specific condition, but may include:
- Neurological problems: Difficulty with walking, balance, and coordination
- Cognitive impairment: Problems with memory, attention, and learning
- Vision and hearing loss: Damage to the optic nerve or auditory nerve
References
- [5] describes lysosomal storage diseasedoid as an obsolete hereditary central nervous system demyelinating disease.
- [12] mentions a hereditary CNS demyelinating disease as a condition primarily due to an inherited genetic condition.
Note: The information provided is based on the search results and may not be comprehensive or up-to-date.
Additional Characteristics
- Krabbe disease
- Pelizaeus-Merzbacher disease
- Hereditary CNS demyelinating diseases
- Adrenoleukodystrophy
Signs and Symptoms
Based on the provided context, it appears that there are several hereditary central nervous system demyelinating diseases that have been identified in medical literature.
Common symptoms across various demyelinating diseases:
- Motor weakness or paralysis [1]
- Sensory symptoms such as numbness or tingling in limbs or face [2]
- Visual loss or disturbances [3]
- Double vision (diplopia) [4]
- Gait disturbance and balance problems [5]
Specific symptoms associated with certain demyelinating diseases:
- Tumefactive demyelinating lesions: can present with motor, cognitive, cerebellar, and brainstem dysfunction, as well as headache, seizures, aphasia, and other neurological symptoms [6]
- LHON-Plus: extraocular manifestations include movement disorders, peripheral neuropathy, seizures, and demyelinating-like syndromes [7]
General characteristics of hereditary central nervous system demyelinating diseases:
- These conditions can cause a wide variety of neurologic symptoms due to the involvement of multiple areas of the brain, optic nerve, and spinal cord [8]
- The pathological hallmark is the formation of demyelinating lesions in the brain and spinal cord [9]
Demyelination process and its effects:
- Demyelinating diseases cause damage to the myelin sheath surrounding nerve cells (neurons) in the central and peripheral nervous system [10]
- This can lead to neurological symptoms such as trouble walking or seeing, changes in bowel and bladder function, and other complications [11]
Important notes:
- Multiple sclerosis is the most common demyelinating disease of the central nervous system [12]
- Acute Disseminated Encephalomyelitis (ADEM) is a brief but widespread bout of inflammation that damages myelin in children [13]
- Demyelinating disorders can be primary (e.g., multiple sclerosis) or secondary (e.g., infectious, ischemic, metabolic, or toxic) [14]
Please note that the context provided seems to focus more on general demyelinating diseases rather than specifically obsolete hereditary central nervous system demyelinating disease. If you could provide more information or clarify what you mean by "obsolete hereditary central nervous system demyelinating disease," I would be happy to try and assist further.
References: [1] - [15] correspond to the numbers in the provided context.
Diagnostic Tests
Treatment
Treatment Options for Obsolete Hereditary Central Nervous System Demyelinating Diseases
Hereditary central nervous system (CNS) demyelinating diseases are a group of rare and complex conditions that affect the myelin sheath surrounding nerve cells in the brain and spinal cord. While there is no cure for these diseases, various treatment options have been explored to manage symptoms and slow disease progression.
Historical Treatment Approaches
In the past, treatments for hereditary CNS demyelinating diseases were limited and often ineffective. However, with advances in medical research, several therapies have been investigated:
- Corticosteroids: Pulsed intravenous corticosteroid therapy has been used to manage symptoms and improve clinical outcomes in some patients [1].
- Immunomodulators: High-efficacy oral drugs like fingolimod and cladribine have shown promise in treating relapsing-remitting multiple sclerosis (RRMS), a type of CNS demyelinating disease [4].
Current Treatment Landscape
While there is no specific treatment for obsolete hereditary CNS demyelinating diseases, the following approaches may be considered:
- Symptomatic management: Focusing on managing symptoms and improving quality of life through rehabilitation, medication, and other supportive therapies.
- Disease-modifying therapies (DMTs): Investigational DMTs, such as cell therapy [11], have shown potential in treating various CNS disorders.
Important Considerations
It is essential to note that:
- Hereditary CNS demyelinating diseases are rare and complex conditions, requiring individualized treatment approaches.
- Treatment options may vary depending on the specific disease subtype and patient characteristics.
- Further research is needed to develop effective treatments for these obsolete hereditary CNS demyelinating diseases.
References: [1] Andreadou E (2013) - [5] [4] Khosravi S (2024) - [3] [11] Sun JM, Kurtzberg J (2018) - [11]
Note: The numbers in square brackets refer to the corresponding search results provided in the context.
Recommended Medications
- Corticosteroids
- Immunomodulators
- Symptomatic management
- Disease-modifying therapies (DMTs)
- cell therapy
💊 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 Obsolete Hereditary Central Nervous System Demyelinating Diseases
Hereditary central nervous system (CNS) demyelinating diseases are a group of rare and often debilitating conditions that affect the myelin sheath surrounding nerve fibers in the brain and spinal cord. These diseases can be challenging to diagnose, as they may present with similar symptoms to other conditions.
Conditions to Consider:
- Adrenoleukodystrophy (ALD): A genetic disorder caused by a mutation in the ABCD1 gene, leading to progressive damage to the myelin sheath and axons in the CNS. ALD typically affects males and can present with symptoms such as vision loss, weakness, and cognitive decline [7].
- Pelizaeus-Merzbacher disease (PMD): A rare genetic disorder caused by a mutation in the gene encoding for proteolipid protein (PLP), leading to a failure of myelination in the CNS. PMD typically presents with symptoms such as spasticity, seizures, and cognitive decline [10].
- Hereditary spastic paraplegia (HSP): A group of genetic disorders that affect the axons and myelin sheath in the spinal cord, leading to progressive weakness and paralysis of the legs. HSP can present with symptoms such as muscle stiffness, weakness, and bladder dysfunction [11].
Diagnostic Considerations:
When considering a differential diagnosis for obsolete hereditary CNS demyelinating diseases, it is essential to consider the following factors:
- Genetic testing: Genetic testing can help identify mutations in genes associated with these conditions, such as ABCD1 (ALD) or PLP (PMD).
- Imaging studies: Imaging studies, such as MRI and CT scans, can help identify abnormalities in the CNS, including demyelination, axonal damage, and atrophy.
- Clinical presentation: The clinical presentation of these conditions can vary widely, but often includes symptoms such as weakness, spasticity, seizures, and cognitive decline.
Conclusion:
Differential diagnosis of obsolete hereditary CNS demyelinating diseases requires a comprehensive approach that considers genetic testing, imaging studies, and clinical presentation. By considering these factors, healthcare providers can accurately diagnose and manage these rare and often debilitating conditions.
Additional Information
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_10201
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:3212
- core#notation
- DOID:3212
- rdf-schema#label
- obsolete hereditary central nervous system demyelinating disease
- owl#deprecated
- true
- relatedICD
- http://example.org/icd10/G37.9
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.