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amyotrophic lateral sclerosis type 26
Description
Amyotrophic Lateral Sclerosis (ALS) Type 26, also known as ALS26, is a rare and specific subtype of the neurodegenerative disorder ALS.
Characteristics:
- Adult onset: ALS26 typically affects adults, with symptoms appearing in adulthood.
- Upper and lower motor neuron disease: This subtype is characterized by damage to both upper and lower motor neurons, leading to muscle weakness and atrophy.
- Bulbar dysfunction: ALS26 often involves the degeneration of motor neurons responsible for controlling bulbar functions, such as swallowing and speech.
- Limb weakness: Patients with ALS26 may experience progressive limb weakness, affecting their ability to perform daily activities.
Additional features:
- Some individuals with ALS26 may also develop frontotemporal dementia (FTD), a condition characterized by changes in personality, behavior, and language.
- Parkinsonism, a set of symptoms similar to those experienced in Parkinson's disease, such as tremors and rigidity, can also be present.
References:
- [10] ALS26 is described as an autosomal dominant neurodegenerative disorder characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness.
- [12] Amyotrophic lateral sclerosis-26 with or without frontotemporal dementia (ALS26) is an autosomal dominant neurodegenerative disorder characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness.
- [13] ALS26 is defined as an amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness.
Note: The information provided is based on the search results and context, which may not be comprehensive or up-to-date. If you have any specific questions or would like further clarification, please let me know!
Additional Characteristics
- Adult onset ALS subtype affecting upper and lower motor neurons
- Bulbar dysfunction, limb weakness, and frontotemporal dementia may be present
- Autosomal dominant neurodegenerative disorder with adult onset of muscle weakness and atrophy
Signs and Symptoms
Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that affects the nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and eventually death. While ALS does not have a specific "type 26," I will provide you with information on the general signs and symptoms of ALS.
Early Signs and Symptoms:
- Muscle twitching and weakness in an arm or leg [1]
- Trouble swallowing or slurred speech [1]
- Muscle cramping and fasciculations (involuntary muscle contractions) [2]
Progressive Weakness:
- Gradually progressive weakness, often starting with one limb [3]
- Difficulty with speech and swallowing or breathing [4]
Clinical Manifestations:
- Muscle weakness, limb paralysis, and bulbar and corticobulbar symptomatology (e.g., dysphagia, difficulty speaking) [5]
- Frontotemporal dementia (FTD) manifest as primary progressive aphasia, memory impairment, executive dysfunction, and other cognitive symptoms [6]
Upper Motor Neuron (UMN) Signs:
- Muscle tone increase
- Slow movement
- Hyperreflexia (increased reflexes)
- Presence of the Babinski sign, or upward response of the big toe when the sole is stimulated [8]
It's essential to note that ALS can progress at different rates and may present with varying symptoms in different individuals. If you suspect someone has ALS, it's crucial to consult a healthcare professional for an accurate diagnosis.
References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] (Not applicable, as there is no context result 7) [8] Context result 8
Additional Symptoms
- Slow movement
- Presence of the Babinski sign, or upward response of the big toe when the sole is stimulated
- Muscle twitching and weakness in an arm or leg
- Muscle cramping and fasciculations (involuntary muscle contractions)
- Gradually progressive weakness, often starting with one limb
- Difference with speech and swallowing or breathing
- Muscle weakness, limb paralysis, and bulbar and corticobulbar symptomatology
- Frontotemporal dementia (FTD) manifest as primary progressive aphasia, memory impairment, executive dysfunction, and other cognitive symptoms
- Muscle tone increase
- Hyperreflexia (increased reflexes)
- slurred speech
Diagnostic Tests
Based on the search results, it appears that you are looking for diagnostic tests related to Amyotrophic Lateral Sclerosis (ALS) with a specific code "26".
Diagnostic Tests for ALS:
While there is no single test to confirm ALS, various diagnostic tests can help support the diagnosis. According to [result 2], nerve conduction studies and needle electromyography (EMG) are useful for confirming the diagnosis of ALS and excluding peripheral conditions that resemble it.
Some other diagnostic tests mentioned in the search results include:
- Electromyography (EMG): This test measures the electrical activity of muscles to detect abnormal muscle contractions or weakness. [result 1]
- Nerve Conduction Studies: These studies measure the speed and strength of electrical signals traveling through nerves. [result 2]
- Muscle Biopsy: A biopsy involves taking a small sample of muscle tissue for examination under a microscope. [result 9]
Other Relevant Information:
It's worth noting that diagnosing ALS can be challenging, and there is no single test to confirm the diagnosis. According to [result 12], a healthcare provider will take a full medical history, conduct a physical exam, and order more specific muscle and imaging tests.
Additionally, [result 13] mentions that the diagnoses of ALS is made possible by: History, physical and appropriate neurological examinations to ascertain clinical finding which may suggest suspected, possible, probable or definite ALS.
ICD-9 Code "26"
Regarding the ICD-9 code "26", it appears to be related to diagnostic procedures on salivary glands and ducts. However, this is not directly related to ALS diagnosis. According to [result 11], ICD-9 codes "26.0" to "26.9" are subcategories of diagnostic procedures on salivary glands and ducts.
I hope this information helps you understand the diagnostic tests for ALS with a specific code "26".
Additional Diagnostic Tests
- Muscle Biopsy
- Electromyography (EMG)
- Nerve Conduction Studies
Treatment
Current Drug Treatments for Amyotrophic Lateral Sclerosis (ALS)
There are currently seven FDA-approved drugs to treat ALS and its symptoms, including:
- Qalsody
- RELY
- Radicava (riluzole), which is an IV treatment approved in 2017 and an oral suspension approved in 2022. It is intended to slow the loss of physical function and the progression of ALS by preventing nerve damage.
Other Potential Treatments
Research has shown that other drugs may also be effective in treating ALS, including:
- Riluzole: Studies have demonstrated that riluzole treatment reduces the loss of motoneurons and increases survival by 9% in one year [4][5]. It is also the first medication to show efficacy in extending life in ALS patients [5].
- Edaravone: This drug has shown modest clinical benefits, but it remains restricted to only two disease-modifying therapies for ALS [7].
Symptomatic Treatments
In addition to these treatments, symptomatic treatments and interventions are also used to manage the symptoms of ALS. These may include:
- Respiratory therapy
- Nutritional therapy
- Prescription treatments such as Rilutek (riluzole) to prevent pneumonia and other infections [12]
Insurance Coverage
Most insurance providers, including Medicare, will provide coverage for ALS treatment and care, but specific policies may vary from provider to provider [14].
It's worth noting that while these treatments can help manage the symptoms of ALS, there is currently no cure for the disease.
💊 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 differential diagnosis refers to the process of distinguishing between different possible causes or conditions that may present with similar symptoms.
In the case of Amyotrophic Lateral Sclerosis (ALS), a differential diagnosis would involve identifying other conditions that may mimic ALS. According to search result [10], clinical features of ALS include amyotrophic lateral sclerosis, aphasia, bulbar palsy, frontotemporal dementia, Lewy bodies, memory impairment, and personality changes.
Search result [13] mentions Benign monomelic amyotrophy as another differential diagnosis that may mimic monomelic-onset ALS. It typically presents as focal atrophy and weakness of one limb.
Additionally, search result [14] states that there are two types of ALS differentiated by genetics: familial and sporadic (idiopathic). Diagnosis is determined by excluding other conditions through electrodiagnostic testing.
Search result [15] further emphasizes the importance of clinical diagnosis in ALS, with electrodiagnostic testing contributing to diagnostic accuracy.
Therefore, a differential diagnosis for ALS type 26 would involve considering the following possibilities:
- Benign monomelic amyotrophy
- Familial ALS (if genetic factors are involved)
- Sporadic (idiopathic) ALS (if no genetic factors are involved)
- Other conditions that may present with similar symptoms, such as frontotemporal dementia or Lewy bodies.
It's essential to note that a definitive diagnosis of ALS can only be made through a comprehensive clinical evaluation and exclusion of other possible causes.
Additional Differential Diagnoses
- Benign monomelic amyotrophy
- Familial ALS
- Sporadic (idiopathic) ALS
- Lewy bodies
- frontotemporal dementia
Additional Information
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- https://w3id.org/def/predibionto#has_symptom_4199
- owl#annotatedSource
- t361361
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0081380
- core#notation
- DOID:0081380
- oboInOwl#hasDbXref
- MIM:619133
- rdf-schema#label
- amyotrophic lateral sclerosis type 26
- IAO_0000115
- An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13.
- rdf-schema#subClassOf
- t361622
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- RO_0002488
- http://purl.obolibrary.org/obo/HP_0003581
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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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.