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amyotrophic lateral sclerosis type 6
ICD-10 Codes
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Description
Amyotrophic Lateral Sclerosis (ALS) Type 6, also known as ALS6, is a rare form of the neurodegenerative disease that affects motor neurons in the brain and spinal cord. It is characterized by progressive muscular weakness, paralysis, and degeneration of motor neurons.
Causes and Genetics
ALS6 is caused by a heterozygous mutation in the FUS gene (137070) on chromosome 16p11 [2]. This genetic mutation leads to the degeneration of motor neurons, resulting in muscle weakness and paralysis. The disease can occur with or without frontotemporal dementia.
Symptoms
The earliest symptoms of ALS6 include:
- Muscle twitching
- Cramping
- Stiffness
- Weakness
As the disease progresses, individuals may experience:
- Slurred speech (dysarthria)
- Difficulty swallowing
- Loss of motor control in hands and arms
- Tripping and falling
- Muscle weakness and paralysis [4]
Characteristics
ALS6 is a neurodegenerative disorder that affects both upper and lower motor neurons in the brain. It is a progressive disease, meaning it worsens over time, and is incurable and fatal.
Prevalence and Diagnosis
The prevalence of ALS6 is not well-documented, but it is considered a rare form of ALS. Diagnosis is typically made through a combination of clinical evaluation, genetic testing, and imaging studies.
References:
[1] Mar 1, 2016 — The earliest symptoms include muscle twitching, cramping, stiffness, or weakness. [2] Amyotrophic lateral sclerosis-6 with or without frontotemporal dementia (ALS6) is caused by heterozygous mutation in the FUS gene (137070) on chromosome 16p11. [3] Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene. [4] Mar 1, 2016 — The earliest symptoms include muscle twitching, cramping, stiffness, or weakness. Affected individuals may develop slurred speech (dysarthria) ... [5] by C Vance · 2009 · Cited by 3082 — Amyotrophic lateral sclerosis (ALS) causes progressive muscular weakness due to the degeneration of motor neurons in the brain and spinal cord. [6] Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia is a neurodegenerative disorder that affects upper and lower motor neurons in the brain ... [7] Dec 31, 2014 — Symptoms · Muscle weakness · Tripping · Falling · Loss of motor control in hands and arms · Difficulty speaking · Difficulty swallowing · Difficulty ... [8] ALS is a nervous system disease that affects nerve cells in the brain and spinal cord. ALS causes loss of muscle control. The disease gets worse over time. [9] Apr 11, 2024 — Amyotrophic lateral sclerosis (ALS) is the most common degenerative disease of the motor neuron system. Although ALS is incurable and fatal, with median ...
Additional Characteristics
- Weakness
- Difficulty swallowing
- Muscle weakness and paralysis
- Stiffness
- Slurred speech (dysarthria)
- Tripping and falling
- Muscle twitching
- Cramping
- Loss of motor control in hands and arms
Signs and Symptoms
Based on the provided context, here are the signs and symptoms of Amyotrophic Lateral Sclerosis (ALS) type 6:
Early Symptoms
- Muscle twitching, cramping, stiffness, or weakness [2]
- Slurred speech (dysarthria) [4, 5]
- Difficulty chewing or swallowing (dysphagia), which may occur later in the progression of the disease [4]
Primary Initial Symptom
- Progressive, unilateral weakness in the distal legs and arms without remission or relapse [8]
Other Early Symptoms
- Tripping, dropping things, abnormal fatigue of the arms and/or legs
- Slurred speech
- Muscle cramps and twitches
- Loss of motor control in the hands and arms
- Trouble using arms and legs
- Twitching and cramping of muscles, especially those in the hands and feet [9]
Key Points to Note
- ALS type 6 is characterized by progressive muscle weakness and atrophy.
- The primary initial symptom is often unilateral weakness in the distal limbs.
- Other early symptoms may include slurred speech, difficulty chewing or swallowing, and loss of motor control.
Please note that these symptoms are based on the provided context and may not be an exhaustive list. If you have any further questions or would like more information, feel free to ask!
Additional Symptoms
- Slurred speech (dysarthria)
- Difficulty chewing or swallowing (dysphagia)
- Loss of motor control in the hands and arms
- Muscle twitching, cramping, stiffness, or weakness
- or legs
- Trouble using arms and legs
- Twitching and cramping of muscles, especially those in the hands and feet
- progressive weakness
Diagnostic Tests
Diagnostic Tests for Amyotrophic Lateral Sclerosis (ALS)
Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that affects the nerve cells in the brain and spinal cord. Diagnosing ALS can be challenging, but various diagnostic tests can help confirm the condition.
- Electromyography (EMG): This test evaluates how well nerves and muscles are functioning. EMG can include:
- Needle electromyography (EMG): Measures electrical activity in muscles.
- Surface electromyography (EMG): Measures electrical activity in muscles using electrodes on the skin. These tests can help identify muscle weakness, atrophy, or abnormal electrical activity [5][6].
- Nerve Conduction Studies: This test measures how well nerves transmit electrical signals. It can help confirm nerve damage and exclude peripheral conditions that resemble ALS [4][7].
- Blood and Urine Tests: These tests are used to rule out other possible causes of symptoms, such as blood and urine studies for high-resolution serum protein [2][3].
- Magnetic Resonance Imaging (MRI): This test can help identify changes in the brain or spinal cord that may be associated with ALS.
- Computed Tomography (CT) scans: These tests can also help identify changes in the brain or spinal cord.
Other Diagnostic Tests
In addition to these tests, a thorough physical exam and medical history are essential for diagnosing ALS. A healthcare professional will ask about personal and family medical history, perform a physical examination, and may order other tests as needed [9].
It's worth noting that there is no specific test to confirm ALS
Additional Diagnostic Tests
- Magnetic Resonance Imaging (MRI)
- Blood and Urine Tests
- Electromyography (EMG)
- Nerve Conduction Studies
- Computed Tomography (CT) scans
Treatment
Current Drug Treatments for Amyotrophic Lateral Sclerosis (ALS)
There are currently six drugs approved by the U.S. Food and Drug Administration (FDA) to treat ALS and its symptoms [13]. These include:
- Qalsody
- Radicava (edaravone)
- Rilutek (riluzole)
- Tiglutik
- Exservan
- Nuedexta
Approved Treatments
Only two drugs have been approved by the FDA for the treatment of ALS: riluzole and edaravone [12]. Both treatments marginally increase survival time, but there is no cure for the disease.
Other Therapies
Regarding the treatment of other symptoms that are present in ALS patients, spasticity can be treated by cannabinoids, tizanidine, and baclofen [6].
Multidisciplinary Treatment Approach
A combination of both upper and lower motor neuron degeneration ultimately leads to respiratory failure, which is a major cause of death in ALS patients [10]. A multidisciplinary treatment approach and a collaborative therapeutic effort are required for the management of this disease.
References:
[6] by P Hoxhaj · 2023 · Cited by 10 — [10] Amyotrophic Lateral sclerosis/motor neuron disease is a severe neurodegenerative disease characterized by upper and Lower motor neuron degeneration for which there is no truly effective treatment. Several therapies ... [12] Only two drugs have been approved by the Food and Drug Administration for the treatment of ALS: riluzole170 and edaravone. Both treatments marginally increase ... [13] There are currently six drugs approved by the U.S. Food and Drug Administration (FDA) to treat ALS and its symptoms: Qalsody, Radicava, Rilutek, Tiglutik, Exservan and Nuedexta. Please consult your doctor or health care professional about which ones may be right for you.
💊 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 Amyotrophic Lateral Sclerosis (ALS)
Amyotrophic Lateral Sclerosis (ALS) is a complex neurological disorder that can be challenging to diagnose, especially in its early stages. A differential diagnosis is essential to rule out other conditions that may present with similar symptoms.
Conditions to Consider
When diagnosing ALS, it's crucial to consider the following conditions that may mimic or coexist with ALS:
- Myasthenia Gravis: An autoimmune disorder that affects muscle weakness and fatigue.
- Kennedy's Disease: A rare genetic disorder that causes progressive muscle weakness and atrophy.
- Syringobulbia: A condition characterized by a fluid-filled cavity in the brainstem, leading to symptoms such as difficulty swallowing and speaking.
- Foramen Magnum Syndrome: A rare condition caused by compression of the spinal cord or brainstem, resulting in symptoms like weakness, numbness, and paralysis.
Key Diagnostic Features
To differentiate ALS from these conditions, clinicians look for specific diagnostic features:
- Bilateral Tongue Fasciculation: This is a strong indicator of ALS (1).
- UMN and LMN Involvement: ALS affects both upper motor neurons (UMNs) and lower motor neurons (LMNs), whereas other conditions may primarily affect one or the other (5).
Genetic Considerations
ALS can be classified into two main types based on genetics:
- Familial ALS: A rare, inherited form of ALS.
- Sporadic ALS: The most common type, accounting for approximately 90% of cases.
Electrodiagnosis
Electromyography (EMG) and nerve conduction studies (NCS) are essential diagnostic tools in ALS. These tests can help identify abnormal muscle activity and nerve conduction patterns, which are characteristic of ALS (8).
In conclusion, a comprehensive differential diagnosis is crucial for accurately diagnosing ALS. By considering the conditions mentioned above and looking for specific diagnostic features, clinicians can make an informed decision about the presence or absence of ALS.
References:
[1] Bilateral tongue fasciculation strongly suggests a diagnosis of ALS (Li et al., 1986). [5] ALS affects both UMN and LMN, making it distinct from other conditions that may primarily affect one or the other. [8] Hallmark findings in the electrodiagnosis of ALS include normal sensory nerve conduction studies and abnormal motor nerve conduction studies.
Additional Differential Diagnoses
- Syringobulbia
- Foramen Magnum Syndrome
- Kennedy's disease
- myasthenia gravis
Additional Information
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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.