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amyotrophic lateral sclerosis type 25
Description
Based on the search results, it appears that Amyotrophic Lateral Sclerosis (ALS) Type 25 is a specific subtype of ALS.
- ALS Type 25 is characterized by rapidly progressive muscle weakness and respiratory failure [1].
- It affects upper motor neurons, leading to muscle atrophy, weakness, and eventually death due to respiratory failure [2].
- ALS Type 25 is a neurodegenerative disorder that affects the nerve cells in the brain and spinal cord, causing progressive muscle weakness and paralysis [6].
Some common symptoms of ALS Type 25 include:
- Muscle weakness and atrophy
- Respiratory failure
- Progressive paralysis
It's worth noting that ALS Type 25 is a rare subtype of ALS, and more research is needed to fully understand its characteristics and progression.
References: [1] - Context result 1: "Amyotrophic lateral sclerosis 25 is a neurodegenerative disorder characterized by rapidly progressive muscle weakness and respiratory failure." [2] - Context result 2: "Amyotrophic lateral sclerosis is a neurodegenerative disorder clinically characterized by rapidly progressive muscle weakness and death due to respiratory..." [6] - Context result 7: "Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord."
Additional Characteristics
- Respiratory failure
- Muscle atrophy
- Rapidly progressive muscle weakness
- Progressive paralysis
Signs and Symptoms
Common Signs and Symptoms of ALS
Amyotrophic Lateral Sclerosis (ALS) is a progressive neurological disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and eventually death. The symptoms of ALS can vary from person to person, but here are some common signs and symptoms:
- Muscle Weakness: Muscle weakness or wasting is one of the most common symptoms of ALS. This can affect any muscle group, including the arms, legs, neck, and face.
- Spasticity: Tight and stiff muscles (spasticity) are also a common symptom of ALS.
- Speech Difficulty: Many people with ALS experience difficulty speaking, which can manifest as slurred or nasal speech.
- Muscle Cramps: Muscle cramps are another common symptom of ALS, often occurring before the weakness sets in.
- Weight Loss and Fatigue: People with ALS may also experience weight loss and fatigue due to muscle wasting and decreased physical activity.
Other Possible Symptoms
In addition to these common symptoms, some people with ALS may experience other symptoms, including:
- Difficulty Chewing or Swallowing: Some individuals may have trouble chewing or swallowing food.
- Wrist Drop: Wrist drop can occur when the muscles in the forearm and hand become weak.
- Finger Dexterity Issues: Reduced finger dexterity and cramping can also be a symptom of ALS.
Progression of Symptoms
The symptoms of ALS progress over time, ultimately leading to ventilatory failure due to the loss of ability to control breathing. It's essential for individuals with ALS to work closely with their healthcare providers to manage symptoms and slow disease progression.
References:
- [1] - Muscle weakness affecting an arm, a leg, or the neck; Slurred and nasal speech; Difficulty chewing or swallowing food.
- [2] - The symptoms of ALS progress over time and, ultimately, the disease leads to ventilatory failure because affected individuals lose the ability to control breathing.
- [4] - Not all people with ALS experience the same symptoms or the same sequences or patterns of progression. However, progressive muscle weakness and paralysis are common symptoms.
- [6] - Muscle cramps are also common and may occur before the weakness, but no changes in sensation occur.
- [8] - ALS results in muscles that are reduced in size (atrophic), weak, and soft, or muscles that are stiff, tight, and spastic.
Additional Symptoms
- Muscle Cramps
- Difficulty Chewing or Swallowing
- Weight Loss and Fatigue
- Speech Difficulty
- Wrist Drop
- Finger Dexterity Issues
- muscle weakness
- spasticity
Diagnostic Tests
Diagnostic Tests for Amyotrophic Lateral Sclerosis (ALS)
Diagnosing ALS can be a complex process, and it typically involves a combination of clinical examinations, laboratory tests, and nerve conduction studies. Here are some of the diagnostic tests used to diagnose ALS:
- Electromyography (EMG): This test evaluates how well nerves and muscles are functioning by measuring the electrical activity of muscles. EMG can include:
- Needle EMG: A small needle is inserted into a muscle to measure its electrical activity.
- Surface EMG: Electrodes are placed on the skin's surface to measure muscle activity.
- Nerve Conduction Study (NCS): This test measures how well nerves transmit electrical signals. NCS can help identify nerve damage or dysfunction.
- Magnetic Resonance Imaging (MRI): MRI scans can be used to rule out other conditions that may mimic ALS, such as multiple sclerosis or a spinal cord injury.
- Muscle and Nerve Biopsies: These tests involve taking a small sample of muscle or nerve tissue for examination under a microscope. This can help confirm the presence of ALS.
- Spinal Tap: A spinal tap (lumbar puncture) may be performed to rule out other conditions that may cause similar symptoms.
According to [result 2], the diagnosis of ALS is determined by excluding other conditions and utilizing clinical examinations, laboratory tests, and nerve conduction/needle electromyography. It's worth noting that some people may need multiple EMG tests before receiving an ALS diagnosis, as the test may not be able to clearly identify the signs of ALS [result 3].
Additionally, a thorough physical exam and personal and family medical history are also important components of the diagnostic process [result 4]. The diagnosis of ALS is made by means of clinical manifestations and complementary tests such as electroneuromiography (ENMG) [result 8].
It's essential to note that laboratory tests are performed primarily to rule out other disease processes, and results generally are normal in ALS [result 7].
Additional Diagnostic Tests
- Nerve Conduction Study (NCS)
- Magnetic Resonance Imaging (MRI)
- Electromyography (EMG)
- Spinal Tap
- Muscle and Nerve Biopsies
Treatment
Current Drug Treatments for Amyotrophic Lateral Sclerosis (ALS)
There are currently two FDA-approved medications for the treatment of ALS:
- Riluzole: This is the only medication that has shown efficacy in extending life in ALS patients. It works by blocking the action of a chemical called glutamate, which can be toxic to motor neurons.
- Edaravone: This medication has been approved for the treatment of ALS patients and has been shown to slow down disease progression.
Other Experimental Treatments
There are several other experimental treatments being researched for ALS, including:
- Antisense oligonucleotides: These are small molecules that can be designed to target specific genes involved in the development of ALS. One example is Qalsody (tofersen), which has been approved by the FDA for the treatment of ALS associated with a mutation in the superoxide dismutase 1 (SOD1) gene.
- Stem cell therapies: These involve using stem cells to replace damaged motor neurons.
Challenges and Limitations
Despite these advances, there are still significant challenges and limitations to treating ALS. The disease is complex and multifactorial, and more research is needed to understand its underlying mechanisms and develop effective treatments.
References:
- [1] Riluzole (Rilutek) is the only medication that has shown efficacy in extending life in ALS patients.
- [2] Edaravone has been approved for the treatment of ALS patients and has been shown to slow down disease progression.
- [3] Qalsody (tofersen) has been approved by the FDA for the treatment of ALS associated with a mutation in the superoxide dismutase 1 (SOD1) gene.
💊 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
The differential diagnosis for amyotrophic lateral sclerosis (ALS) involves excluding other conditions that may present with similar symptoms. According to the search results, some of the differential diagnoses discussed in the literature include:
- Benign fasciculation syndrome [2]
- Multifocal motor neuropathy [2]
- Neuralgic amyotrophy [2]
- Bulbospinal muscular atrophy [2]
Additionally, ALS may be mimicked by disorders affecting different levels of the motor system from cortex to muscle, and clinical heterogeneity is a feature of both ALS and related syndromes allowing for a large differential diagnosis [12].
It's also worth noting that the diagnosis of ALS remains a clinical diagnosis and is based on the presence of both upper motor neuron (UMN) and lower motor neuron (LMN) signs, as stated in [13].
Additional Differential Diagnoses
- Multifocal motor neuropathy
- Neuralgic amyotrophy
- Benign fasciculation syndrome
- Bulbospinal muscular atrophy
Additional Information
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_4198
- owl#annotatedSource
- t361808
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0081379
- core#notation
- DOID:0081379
- oboInOwl#hasDbXref
- MIM:617921
- rdf-schema#label
- amyotrophic lateral sclerosis type 25
- IAO_0000115
- An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively).
- rdf-schema#subClassOf
- t361570
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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