amyotrophic lateral sclerosis type 12

Amyotrophic lateral sclerosis type 12 (ALS12) is a neurodegenerative disorder characterized by the onset of ALS in adulthood [1][2][7]. This condition is marked by the signs and symptoms of ALS, including muscle twitching and weakness, trouble swallowing or slurred speech, and eventually affects control of the muscles needed for movement [5].

In addition to these symptoms, ALS12 may also present with a pattern of movement abnormalities known as parkinsonism [3]. Parkinsonism is characterized by tremors, stiffness, and slowed movement.

ALS12 is caused by a mutation in the OPTN gene on chromosome 10 [4][6]. This genetic mutation leads to the degeneration of motor neurons, which are specialized nerve cells that control muscle movement. As a result, individuals with ALS12 experience progressive muscle weakness and atrophy, eventually leading to paralysis and respiratory failure.

It's worth noting that ALS12 can also be associated with frontotemporal dementia (FTD), a condition characterized by changes in personality, behavior, and language [1][2]. However, not all cases of ALS12 present with FTD symptoms.

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that affects the nerve cells responsible for controlling voluntary muscle movement. The symptoms of ALS can vary from person to person, but here are some common signs and symptoms:

Early Symptoms:

• Clumsiness or weakness in the arms or legs [4]
• Muscle cramps and twitches [4]
• Slurred speech (dysarthria) [2, 3]
• Difficulty chewing or swallowing (dysphagia) [3]

Progressive Weakness:

• Progressive, unilateral weakness in the distal legs and arms without remission or relapse [6]
• Muscle weakness affecting an arm, a leg, or the neck [2]
• Hand weakness or clumsiness [1]

Other Symptoms:

• Tripping and falling due to muscle weakness [1]
• Weakness in the legs, feet, or ankles [1]
• Loss of ability to integrate motor function (apraxia) [5]
• Difficulty with speech, swallowing, and breathing as the disease progresses [8]

It's essential to note that ALS symptoms can vary from person to person, and not everyone will experience all of these symptoms. If you're concerned about your symptoms or those of a loved one, it's crucial to consult a healthcare professional for an accurate diagnosis and proper care.

References: [1] - Symptoms · Trouble walking or doing usual daily activities. [2] - Jul 19, 2024 — Tight and stiff muscles (spasticity); Muscle weakness affecting an arm, a leg, or the neck; Slurred and nasal speech; Difficulty chewing or swallowing (dysphagia). [3] - Mar 1, 2016 — Affected individuals may develop slurred speech (dysarthria) and, later, difficulty chewing or swallowing (dysphagia). [4] - Early symptoms often include clumsiness, unusual limb fatigue, muscle cramps and twitches, and slurred speech. A person experiences symptoms throughout their life. [5] - Apr 11, 2024 — Loss of ability to integrate motor function (apraxia), a premotor function, is seen at times. It is more noticeable in limbs that are not overly used. [6] - Aug 23, 2018 — The primary initial symptom of ALS is progressive, unilateral weakness in the distal legs and arms without remission or relapse. Atypical symptoms may also occur. [7] - Oct 12, 2023 — The first signs of amyotrophic lateral sclerosis (ALS) are often muscle weakness and twitches leading to trips, stumbles, and other seemingly unrelated issues. [8] - Patients with bulbar onset ALS usually present with dysarthria and dysphagia for solids or liquids. Limb symptoms can develop almost simultaneously with bulbar symptoms.

Diagnostic Tests for Amyotrophic Lateral Sclerosis (ALS) Type 12

Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement [8]. ALS type 12 is a specific subtype of the disease. The diagnostic tests for ALS type 12 are similar to those used for other forms of ALS.

Lab Tests and Imaging

• Blood tests are used to look for evidence of other diseases whose symptoms are similar to early signs of ALS [3].
• Electromyography (EMG) and nerve conduction studies are the basic aids in diagnosis and serve both to identify diseases that mimic ALS and to demonstrate the loss of motor neurons [2].
• MRI, muscle and nerve biopsies, spinal tap, genetic tests, and other imaging tests may also be used to confirm the diagnosis of ALS type 12 [6].

Clinical Examination

A thorough physical exam is performed to assess muscle strength and reflexes. The doctor will also ask about personal and family medical history [4]. Nerve conduction studies and needle electromyography (EMG) are useful for confirming the diagnosis of ALS and for excluding peripheral conditions that resemble ALS [5].

No Specific Test

It's worth noting that there is no specific test to confirm ALS type 12, and diagnosis is a process that involves lab tests, neurological tests, and observation [7]. A combination of these tests and clinical evaluation will help determine the presence of ALS type 12.

References: [2] Štětkářová I (2021) Electromyography (EMG) and conduction studies are the basic aids in diagnosis and serve both to identify diseases that mimic ALS and to demonstrate the loss of motor neurons. [3] Lab Tests · Blood and Urine Tests: Blood tests are used to look for evidence of other diseases whose symptoms are similar to early signs of ALS. [4] You'll be given a thorough physical exam and will be asked about your personal and family medical history. You'll probably have an EMG and nerve conduction study. [5] Nerve conduction studies and needle electromyography (EMG) are useful for confirming the diagnosis of ALS and for excluding peripheral conditions that resemble ALS. [6] Feb 13, 2023 — What tests are used to diagnose ALS? · Nerve conduction study · Electromyography · MRI · Muscle and nerve biopsies · Spinal tap · Genetic tests · Other ... [7] Feb 17, 2022 — With no specific test to confirm ALS, diagnosis is a process that involves lab tests, neurological tests and observation. [8] Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement.

Current Drug Treatments for Amyotrophic Lateral Sclerosis (ALS)

There are currently two disease-modifying therapies approved by the FDA for the treatment of ALS: riluzole and edaravone. These medications have shown modest clinical benefits in slowing down the progression of the disease.

• Riluzole: This is the first medication to show efficacy in extending life in ALS patients. It works by interfering with the release of a chemical called glutamate, which can be toxic to motor neurons. Riluzole has been shown to delay the initiation of respiratory dysfunction and extend the median survival of patients by 9% in one year [5].
• Edaravone: This medication is designed to reduce oxidative stress and inflammation in the brain, which are thought to contribute to the progression of ALS. It has been approved for use in combination with riluzole to treat ALS patients.

In addition to these two medications, there are several other drugs that have been approved by the FDA for the treatment of ALS symptoms, including:

• Qalsody: A medication used to manage muscle cramps and spasms associated with ALS.
• Radicava ORS (edaravone) oral suspension: An oral form of edaravone that has been approved for use in treating adults with ALS.
• Tiglutik: A medication used to manage muscle weakness and fatigue associated with ALS.
• Exservan: A medication used to manage muscle cramps and spasms associated with ALS.
• Nuedexta: A medication used to manage symptoms of ALS, including difficulty swallowing and speaking.

It's worth noting that while these medications can help manage some symptoms of ALS, they do not cure the disease. The progression of ALS is still unpredictable, and more research is needed to develop effective treatments for this devastating condition [11].

The differential diagnosis for Amyotrophic Lateral Sclerosis (ALS) type 12, also known as Primary Progressive Multiple Sclerosis (ppMS), involves a range of conditions that can present with similar symptoms. According to the search results, some of these differential diagnoses include:

• Juvenile primary lateral sclerosis
• Infantile-onset ascending hereditary spastic paralysis
• Lyme disease
• Metal toxicity
• Peripheral neuropathy
• Thyroid disease
• Multifocal motor neuropathy
• Myasthenia gravis
• Kennedy's disease (spinal and bulbar muscular atrophy)
• Chronic inflammatory demyelinating polyneuropathy

It is essential to note that an accurate diagnosis of ALS requires a comprehensive evaluation, including clinical assessment, laboratory tests, and imaging studies. A healthcare professional will consider the patient's medical history, physical examination findings, and results from various diagnostic tests to rule out other conditions and confirm the presence of ALS.

In particular, when diagnosing ALS type 12 (ppMS), clinicians often look for a combination of upper motor neuron (UMN) and lower motor neuron (LMN) signs in the same body region, as well as evidence of progressive worsening of neurologic symptoms and increased disability without characteristic attacks, remissions, and relapses early in the disease course [9].

The Awaji criteria for diagnosing ALS are also used to support the diagnosis, which involves a set of clinical and electrophysiological criteria that help differentiate ALS from other conditions [12].