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obsolete amyotrophic lateral sclerosis type 17
ICD-10 Codes
Related ICD-10:
Description
Based on my analysis, I found that ALS17 is an obsolete subtype of Amyotrophic Lateral Sclerosis (ALS), a progressive neurodegenerative disease.
Characteristics of ALS17:
- ALS17 was previously considered as a distinct subtype of ALS.
- It was characterized by the presence of specific genetic mutations and clinical features.
- However, further research
Additional Characteristics
- Obsolete subtype of Amyotrophic Lateral Sclerosis (ALS)
- Progressive neurodegenerative disease
- Characterized by specific genetic mutations and clinical features
Signs and Symptoms
Amyotrophic Lateral Sclerosis (ALS) Type 17 was not mentioned in the search results, but I can provide information on the general symptoms of ALS.
ALS is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, twitching, and eventually paralysis. The symptoms of ALS vary from person to person, but here are some common signs:
- Muscle weakness: Weakness or fatigue in an arm or leg, which can progress to other parts of the body [1][2].
- Twitching: Fasciculations (twitching) in muscles, particularly in the arms, legs, and face [3][4].
- Speech challenges: Slurred speech or difficulty forming words due to weakness in the muscles used for speaking [5][6].
- Swallowing difficulties: Trouble swallowing or drooling due to weakness in the muscles used for eating and drinking [7][8].
- Breathing difficulties: Weakness in the diaphragm muscle, leading to breathing problems [9].
It's essential to note that ALS is a rare disease, and its symptoms can be similar to those of other conditions. If you or someone you know is experiencing these symptoms, it's crucial to consult with a healthcare professional for an accurate diagnosis.
References:
[1] Context result 4 [2] Context result 12 [3] Context result 5 [4] Context result 14 [5] Context result 3 [6] Context result 10 [7] Context result 13 [8] Context result 15 [9] Context result 7
Additional Symptoms
- Breathing difficulties
- Twitching
- Swallowing difficulties
- Speech challenges
- muscle weakness
Diagnostic Tests
Diagnostic Tests for Amyotrophic Lateral Sclerosis (ALS) Type 17
Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. ALS Type 17, also known as AD, is a specific subtype of ALS. While there are no specific diagnostic tests for ALS Type 17, various laboratory and neurological tests can help confirm the diagnosis.
Laboratory Tests
- Electromyography (EMG): This test evaluates how well nerves and muscles are functioning [5]. EMG can include:
- Magnetic resonance imaging (MRI) to rule out other disease processes
- Blood and urine tests to check for any underlying conditions
- Nerve Conduction Studies (NCSs): These studies measure the speed and strength of electrical signals in nerves [9]
- Muscle and Nerve Biopsy: This test involves taking a sample of muscle or nerve tissue to examine under a microscope [7]
Neurological Tests
- Clinical Examination: A thorough physical examination by a neurologist is essential to diagnose ALS Type 17
- Electrophysiology: This test measures the electrical activity in muscles and nerves
Other Diagnostic Methods
- Genetic Testing: While not specific to ALS Type 17, genetic testing can help identify genetic mutations associated with ALS [3]
It's worth noting that diagnosis of ALS is primarily based on clinical examination coupled with nerve conduction studies (NCSs), electromyography (EMG), and laboratory tests [9]. There are no specific diagnostic tests for ALS Type 17.
References: [1] Štětkářová, I. (2021). Electromyography (EMG) and conduction studies in diagnosis of ALS. [2] Feb 28, 2023. An ALS diagnosis can involve various tests and exams. [3] Amyotrophic Lateral Sclerosis Type 17, AD, 614696... [4] Feb 17, 2022. With no specific test to confirm ALS, diagnosis is a process that involves lab tests, neurological tests and observation. [5] Jul 19, 2024. Diagnosing ALS · Electromyography (EMG)—evaluates how well nerves and muscles are functioning. [6] Apr 11, 2024. Laboratory tests are performed primarily to rule out other disease processes; results generally are normal in ALS. [7] Mitsumoto, H. (1997). Diagnostic tests for ALS. [8] Aug 23, 2018. Diagnosis is primarily determined by clinical examination coupled with nerve conduction studies (NCSs), electromyography (EMG), and laboratory tests.
Additional Diagnostic Tests
- Genetic Testing
- Electromyography (EMG)
- Clinical Examination
- Electrophysiology
- Muscle and Nerve Biopsy
- Nerve Conduction Studies (NCSs)
Treatment
Based on the provided context, it appears that there are some investigational therapies and drugs being explored for the treatment of Amyotrophic Lateral Sclerosis (ALS) associated with a mutation in the superoxide dismutase 1 (SOD1) gene.
One such drug is Tofersen, also known as BIIB067, which has been shown to slow progression of the deadly disease [5]. However, it's essential to note that Riluzole, the original FDA-approved remedy for ALS, belongs to the benzothiazole class of drugs and acts as a glutamate pathway antagonist, but its efficacy in extending life in ALS patients is limited to an average of three months [6][8].
Additionally, there are other investigational therapies being explored, such as RAG-17, which targets SOD1 gene activity in ALS patients and has been given orphan drug designation support by the FDA [2]. However, it's crucial to note that these treatments are still in the experimental stages and more research is needed to determine their efficacy.
It's also worth mentioning that there are other drugs being explored for ALS treatment, such as AMX0035, CNM-Au8, and masitinib, which have shown potent therapeutic effects in clinical trials [7]. However, these treatments are not specifically targeted at the SOD1 mutation associated with ALS type 17.
In summary, while there are some investigational therapies being explored for the treatment of ALS associated with a mutation in the superoxide dismutase 1 (SOD1) gene, including Tofersen and RAG-17, more research is needed to determine their efficacy. It's essential to consult with a healthcare professional for accurate and up-to-date information on available treatments.
References: [2] - Context result 2 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8
Recommended Medications
- CNM-Au8
- Tofersen
- AMX0035
- masitinib
- RAG-17
- Riluzole
💊 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
Based on the provided context, it appears that Amyotrophic Lateral Sclerosis (ALS) type 17 is considered an obsolete classification.
However, to provide a comprehensive answer, let's explore the differential diagnosis for ALS-like conditions.
ALS should not be considered a single disease entity, but rather a clinical diagnosis for different pathophysiologic cascades that share the same symptoms [6]. Therefore, when considering differential diagnoses for ALS-like conditions, it's essential to consider various motor neuron diseases.
Some of these include:
- Primary Lateral Sclerosis (PLS): A rare motor neuron disease that shares some clinical features with ALS, such as muscle weakness and atrophy [7].
- Spinal Muscular Atrophy (SMA): A condition characterized by spinal lower motor neuron degeneration, which can present with symptoms similar to ALS [4].
- Kennedy's Disease: A multisystem disorder that affects upper motor neurons, among other systems, and can be considered in the differential diagnosis for ALS-like conditions [3].
Additionally, mitochondrial disorders and compression-induced painless cervical radiculopathy should also be considered in the differential diagnosis of ALS-like conditions [2].
It is essential to note that a comprehensive diagnostic workup, including clinical evaluation, imaging studies, and genetic testing, is necessary to accurately diagnose these conditions.
References: [1] Not applicable (since ALS type 17 is obsolete) [2] Missing in this list of differentials of ALS are mitochondrial disorders, compression-induced painless cervical radiculopathy,[2] [3] by M de Carvalho · 2024 · Cited by 4 — Kennedy's disease is considered a multisystem disorder with features of sexual dysfunction, dysmetabolism (dyslipidemia and diabetes), urinary ... [4] by M de Carvalho · 2023 · Cited by 4 — The designation spinal muscular atrophy (SMA) is used to categorize a range of conditions characterized by spinal lower motor neuron degeneration, rarely ... [5] Not applicable [6] Apr 11, 2024 — ALS should not be considered a single disease entity, but rather a clinical diagnosis for different pathophysiologic cascades that share the ... [7] Jan 4, 2022 — One notable example is Primary Lateral Sclerosis (PLS), a rare motor neuron disease that shares some clinical features with ALS, such as muscle ...
Additional Differential Diagnoses
- Mitochondrial disorders
- Compression-induced painless cervical radiculopathy
- Primary Lateral Sclerosis (PLS)
- Kennedy's disease
- spinal muscular atrophy
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#creation_date
- 2014-09-16T15:20:50Z
- oboInOwl#id
- DOID:0060208
- core#notation
- DOID:0060208
- oboInOwl#created_by
- emitraka
- IAO_0000115
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHMP2B gene on chromosome 3.
- rdf-schema#label
- obsolete amyotrophic lateral sclerosis type 17
- owl#deprecated
- true
- relatedICD
- http://example.org/icd10/G82.51
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1234
- owl#annotatedSource
- t336136
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