amyotrophic lateral sclerosis type 2

Amyotrophic Lateral Sclerosis Type 2 (ALS2) Description

Amyotrophic Lateral Sclerosis Type 2, also known as ALS2, is a rare and inherited form of ALS. It is characterized by slowly progressive spasticity, primarily affecting the upper motor neurons (UMNs). This condition is predominantly a UMN syndrome, which means it mainly affects the nerve cells responsible for controlling muscle movement.

Key Features:

• Progressive Spasticity: ALS2 is marked by gradual and progressive stiffness of the muscles in the limbs, face, and pharynx.
• Spastic Gait and Dysarthria: Individuals with ALS2 may experience difficulty walking (spastic gait) and speaking (dysarthria).
• Rare and Inherited: ALS2 is a rare form of ALS that is inherited in an autosomal recessive pattern.

References:

• [1] ALS2 is a rare, recessively inherited, juvenile-onset form of ALS. It is predominantly a UMN syndrome characterized by slowly progressive spasticity.
• [6] Disease Overview: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.

Note: The information provided above is based on the search results and may not be an exhaustive description of ALS2. However, it should give you a general idea of what this rare form of ALS entails.

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative condition that affects the nerve cells responsible for controlling voluntary muscle movement. While there are different types of ALS, the symptoms and signs can vary but often include:

• Weakness or spasticity in an arm or leg: This is the most common initial symptom, affecting 80% of all cases [2].
• Trouble using the affected limb: As the condition progresses, individuals may experience difficulty walking, doing usual daily activities, or performing tasks that require coordination and balance [1].
• Twitching and cramping of muscles: Muscle twitching, especially in the hands and feet, can be an early sign of ALS [4].
• Loss of motor control: Individuals may experience loss of motor control in their hands and arms, making it difficult to perform tasks that require fine motor skills [4].
• Slurred speech (dysarthria): As the condition progresses, individuals may develop slurred speech due to weakness or paralysis of the muscles used for speaking [7].
• Difficulty chewing or swallowing (dysphagia): Later in the disease, individuals may experience difficulty chewing or swallowing food and liquids [7].
• Muscle cramps and twitches: Muscle cramps and twitches can be an early sign of ALS, often affecting the hands and feet [6].
• Clumsiness and unusual limb fatigue: Individuals may experience clumsiness, unusual limb fatigue, muscle cramps, and twitches as early symptoms [8].

It's essential to note that these symptoms can vary in severity and progression from person to person. If you or someone you know is experiencing any of these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References: [1] Context result 1 [2] Context result 2 [4] Context result 4 [6] Context result 6 [7] Context result 7 [8] Context result 8

Diagnostic Tests for Amyotrophic Lateral Sclerosis (ALS) Type 2

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. ALS Type 2, also known as Juvenile ALS or Finkelstein's Disease, is a rare form of ALS that affects individuals under the age of 25.

Diagnostic Tests

Diagnosing ALS Type 2 can be challenging due to its rarity and similarity in symptoms with other neurological disorders. A combination of clinical evaluation, laboratory tests, and imaging studies are used to confirm the diagnosis.

• Electromyography (EMG): This test measures the electrical activity of muscles and is often abnormal in individuals with ALS Type 2 [1].
• Nerve Conduction Velocity (NCV) Studies: These tests measure the speed at which electrical signals travel through nerves and are typically abnormal in individuals with ALS Type 2 [3].
• Blood Tests: Blood tests may be performed to rule out other conditions that cause similar symptoms, such as Lyme disease or multiple sclerosis [5].
• Urine Tests: Urine tests may also be conducted to check for signs of other diseases that can mimic ALS symptoms [5].
• Imaging Studies: Imaging studies like MRI and CT scans may be used to rule out other conditions that affect the nervous system, such as tumors or cysts [7].

Additional Diagnostic Tools

In some cases, additional diagnostic tools may be employed to confirm the diagnosis of ALS Type 2. These include:

• Muscle Biopsy: A muscle biopsy may be performed to examine muscle tissue for signs of damage or degeneration [6].
• Genetic Testing: Genetic testing may be conducted to identify genetic mutations that can cause ALS Type 2 [6].

References

[1] Apr 10, 2024 — Electromyogram (EMG). A needle is inserted through the skin into various muscles. The test records the electrical activity of the muscles ...

[3] Electrodiagnostic tests, including electomyography (EMG) and nerve conduction velocity (NCV)

[5] Jul 19, 2024 — Blood and urine tests may be performed based on the person's symptoms, test results, and findings from a neurological exam.

[6] Feb 13, 2023 — What tests are used to diagnose ALS? · Muscle and nerve biopsies · Genetic tests

[7] Feb 28, 2023 — An ALS diagnosis usually involves various tests, including testing the nerves, blood tests, spinal tap, X-rays, and neurological exams.

Current Medications for ALS Type 2

There are currently two FDA-approved medications for treating Amyotrophic Lateral Sclerosis (ALS) Type 2, also known as sporadic ALS: Riluzole and Edaravone.

• Riluzole: This medication has been shown to prolong life by three months on average in patients with ALS. It works by reducing the production of a chemical that can harm motor neurons.
  • [5]
  • [3]
• Edaravone (Radicava): Approved in 2022, this oral medication helps prevent nerve-cell death and has been shown to slow disease progression.

Additionally, there are investigational drugs being developed for ALS Type 2. One example is Tofersen, which targets a specific genetic mutation associated with the disease.

• Tofersen (BIIB067): This drug was approved in April 2023 by the FDA specifically for treating patients with ALS associated with a mutation in the superoxide dismutase 1 (SOD1) gene.

Based on the provided context, differential diagnoses for ALS include:

• Juvenile primary lateral sclerosis
• Infantile-onset ascending hereditary spastic paralysis (to a lesser extent)
• Lacunar infarction
• Ulnar neuropathy
• Bulbar symptoms of ALS can also be caused by:
  • Myasthenia gravis
  • Kennedy's disease
  • Syringobulbia
  • Foramen magnum syndrome

Additionally, ALS must be differentiated from the "ALS mimic syndromes" which are unrelated disorders that may have a similar presentation. These include:

• Neuroborreliosis (characterized by muscle weakness, sensory disturbances, meningitis, encephalitis, polyradicular pain, and sphincter dysfunction)
• Mitochondrial disorders
• Parkinson's disease

It is essential to consider these differential diagnoses when evaluating patients with suspected ALS, as they can have a similar clinical presentation. [1][2][3][4][5]

References: [1] - Context 7: "Differential diagnosis​​ ALS must be differentiated from the 'ALS mimic syndromes' which are unrelated disorders that may have a similar..." [2] - Context 11: "The most frequent of these additional differential diagnoses include neuroborreliosis, mitochondrial disorders, and Parkinson's disease." [3] - Context 4: "Differential diagnoses include juvenile primary lateral sclerosis and, to a lesser extent, infantile-onset ascending hereditary spastic paralysis (see these..." [4] - Context 6: "When a patient presents with bulbar symptoms of ALS, the differential diagnosis includes myasthenia gravis, Kennedy's disease, syringobulbia, and foramen magnum..." [5] - Context 5: "Two unrelated conditions, such as lacunar infarction and an ulnar neuropathy, should also always be a consideration."