amyotrophic lateral sclerosis type 10

Amyotrophic Lateral Sclerosis (ALS) Type 10, also known as ALS10, is a rare and specific subtype of the neurodegenerative disease ALS.

Clinical Features ALS10 is characterized by progressive muscle weakness and atrophy, affecting both upper and lower motor neurons. The symptoms typically begin with muscle twitching and weakness in an arm or leg, followed by difficulty swallowing (dysphagia) and slurred speech [4][6].

Genetic Cause ALS10 is caused by a mutation in the TARDBP gene, which codes for the protein TDP-43. This genetic mutation leads to the degeneration of motor neurons in the primary motor cortex, corticospinal tracts, and other parts of the nervous system [2][9].

Phenotypic Characteristics ALS10 is often associated with frontotemporal dementia (FTD), a condition that affects the frontal and temporal lobes of the brain. The symptoms of ALS10 can vary in severity and progression, but typically include muscle weakness, atrophy, and paralysis, as well as cognitive decline and behavioral changes [3][5].

Treatment Options While there is no cure for ALS10, treatment options are available to help slow disease progression and manage symptoms. These may include medications to address muscle weakness and spasticity, respiratory support, physical therapy, and speech therapy [7][8].

In summary, ALS Type 10 (ALS10) is a rare subtype of ALS characterized by progressive muscle weakness and atrophy, caused by a mutation in the TARDBP gene, and often associated with frontotemporal dementia.

Amyotrophic Lateral Sclerosis (ALS) type 10, also known as ALS10, is a rare subtype of the disease. While there may not be extensive information available on this specific topic, I can provide an overview of the general symptoms and signs associated with ALS, which may be relevant to ALS10.

Common Symptoms:

• Muscle weakness or twitching, particularly in the hands and feet [1]
• Loss of motor control in the hands and arms [7]
• Trouble walking or doing usual daily activities [1]
• Weakness in the legs, feet, or ankles [1]
• Hand weakness or clumsiness [1]
• Slurred speech or other signs of muscle weakness in the mouth and tongue [6]

Early Symptoms:

• Muscle twitching, cramping, or fascicular twitching [4][5]
• Abnormal fatigue of the arms and/or legs [2]
• Slurred speech [2][6]
• Muscle cramps and twitches [2][8]

Progression of Symptoms:

• ALS symptoms progressively get worse over time [3]
• As the disease advances, muscle weakness and twitching may affect other parts of the body, leading to loss of motor control and difficulty with daily activities.

Please note that these symptoms are general and may not be specific to ALS10. The progression and presentation of ALS can vary significantly from person to person, even within the same subtype.

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] Context result 7 [8] Context result 8

Diagnosing Amyotrophic Lateral Sclerosis (ALS) Type 10

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. ALS Type 10, also known as TARDBP-related ALS, is a specific subtype of ALS caused by mutations in the TARDBP gene.

Diagnostic Tests for ALS Type 10

Diagnosing ALS Type 10 can be challenging due to its variable presentation and overlap with other neurological conditions. However, several diagnostic tests are used to confirm the diagnosis:

• Electromyography (EMG): Evaluates muscle function by measuring electrical activity in muscles.
• Nerve Conduction Study: Measures the speed and strength of electrical signals traveling through nerves.
• Magnetic Resonance Imaging (MRI): Uses magnetic fields and radio waves to create detailed images of brain and spinal cord structures.
• Muscle and Nerve Biopsies: Examines tissue samples from muscles or nerves for signs of damage or degeneration.
• Spinal Tap: Collects cerebrospinal fluid to analyze for abnormal protein levels or other biomarkers.
• Genetic Tests: Identifies mutations in the TARDBP gene, confirming ALS Type 10 diagnosis.

Clinical Examination and Ruling Out Other Conditions

A thorough clinical examination is essential to rule out other conditions that may mimic ALS symptoms. A series of diagnostic tests are performed to confirm an ALS diagnosis, including blood tests, urine tests, EMG, MRI, muscle and nerve biopsies, spinal tap, and genetic tests.

References:

• [1] Diagnosing ALS · Electromyography (EMG)—evaluates how well nerves and muscles are functioning.
• [2] Clinical resource with information about Amyotrophic lateral sclerosis type 10 and its clinical features, TARDBP, available genetic tests from US and labs.
• [3] What tests diagnose ALS? You'll need several tests to confirm an ALS diagnosis, including: Blood tests. Urine tests. Electromyogram (EMG) to measure the ...
• [6] What tests are used to diagnose ALS? · Nerve conduction study · Electromyography · MRI · Muscle and nerve biopsies · Spinal tap · Genetic tests · Other ...

Amyotrophic Lateral Sclerosis (ALS) type 10, also known as ALS10, is a subtype of the disease caused by a mutation in the superoxide dismutase 1 (SOD1) gene. According to available information, there are currently four drugs that may be prescribed to people living with ALS:

• Qalsody (tofersen)
• Radicava (edaravone)
• Rilutek (riluzole)
• Tofersen

Tofersen is specifically approved for the treatment of ALS10 caused by a gene mutation. It works as an investigational drug, also known as BIIB067, developed to treat ALS associated with a mutation in the superoxide dismutase 1 (SOD1) gene [

The differential diagnosis of amyotrophic lateral sclerosis (ALS) type 10 involves ruling out other conditions that may present with similar symptoms. According to clinical resources [1], the differential diagnosis of ALS type 10 includes:

• Lyme disease
• Metal toxicity
• Peripheral neuropathy
• Thyroid disease
• Multifocal motor neuropathy
• Myasthenia gravis

It's essential to note that a correct and rapid diagnosis of ALS is crucial to prevent erroneous interventions [3]. The differential diagnosis of ALS can be wide, and the accuracy of the diagnosis depends on various factors such as the patient phenotype, type of neurofilament, and laboratory technique used [3].

In about 10% of people with ALS, a genetic cause can be identified [5], while for the rest, the cause remains unknown. Researchers continue to study possible causes of ALS.

It's also worth mentioning that ALS must be differentiated from "ALS mimic syndromes" which are unrelated disorders that may have a similar presentation [8]. A thorough clinical evaluation and laboratory testing are necessary to support the diagnosis of ALS and other forms of motor neuron disease [14].

References: [1] Clinical resource with information about Amyotrophic lateral sclerosis type 10 and its clinical features, ... [3] Accurate and rapid diagnosis of amyotrophic lateral sclerosis (ALS) is important to prevent erroneous interventions. ... [5] For about 10% of people with ALS , a genetic cause can be identified. For the rest, the cause is not known. Researchers continue to study possible causes of ALS ... [8] by LC Wijesekera · 2009 · Cited by 1616 — Differential diagnosis​​ ALS must be differentiated from the "ALS mimic syndromes" which are unrelated disorders that may have a similar ...