juvenile amyotrophic lateral sclerosis type 27

Juvenile Amyotrophic Lateral Sclerosis Type 27 (ALS27)

Juvenile ALS27 is a rare and severe form of motor neuron disease that affects children in early childhood. The disorder is characterized by:

• Early childhood-onset lower extremity spasticity: This is the primary symptom of ALS27, manifesting as toe walking and gait abnormalities [1][5][8][9].
• Autosomal dominant inheritance: ALS27 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition [2].

Key Features

• Progressive upper and lower motor neuron degeneration
• Severe muscle weakness and pyramidal signs (e.g., spasticity)
• Rarely associated with bulbar symptoms (i.e., symptoms affecting the brainstem)

References

[1] Juvenile amyotrophic lateral sclerosis-27 (ALS27) is an autosomal dominant disorder characterized by early childhood-onset lower extremity spasticity, toe walking and gait abnormalities.

[2] Juvenile amyotrophic lateral sclerosis (JALS) is a rare group of motor neuron disorders with gene association in 40% of cases.

[3] Juvenile Amyotrophic Lateral Sclerosis is a genetically heterogeneous neurodegenerative disorder, which is frequently misdiagnosed due to low awareness and diagnostic difficulties.

[4] ALS4 is an autosomal dominant form of juvenile onset ALS associated with slow progression, severe muscle weakness and pyramidal signs, in the absence of bulbar symptoms.

[5] An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities.

[6] These individuals have a rare form of the disorder known as juvenile ALS. The first signs and symptoms of ALS may be so subtle that they are often overlooked or misdiagnosed.

[7] ALS4 is an autosomal dominant form of juvenile onset ALS associated with slow progression, severe muscle weakness and pyramidal signs, in the absence of bulbar symptoms.

[8] An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities.

[9] DO ID: DOID:0081381; Description: An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities.

Based on the provided context, here are the signs and symptoms of juvenile amyotrophic lateral sclerosis (JALS) type 27:

Muscle Atrophy: Muscle atrophy in the legs and hands is a common symptom of JALS type 27 [5]. This can lead to progressive muscle weakness, making it difficult for individuals to perform daily activities.

Difficulty Swallowing: Difficulty swallowing (dysphagia) is another common symptom of JALS type 27 [5].

Muscle Weakness: Muscle weakness in the limbs and face is a hallmark symptom of JALS type 27. This can progress to severe muscle weakness, making it challenging for individuals to perform even simple tasks.

Bulbar Symptoms: Some individuals with JALS type 27 may experience bulbar symptoms, including pseudobulbar syndrome (uncontrolled laughter and weeping) [1].

Upper Motor Neuron Features: Upper motor neuron features, such as spasticity and hyperreflexia, can also be present in individuals with JALS type 27 [7].

It's essential to note that the progression and severity of symptoms can vary depending on the individual and the specific genetic mutation associated with JALS type 27.

References: [1] Context result 1 [5] Context result 5 [7] Context result 7

Diagnostic Tests for Juvenile Amyotrophic Lateral Sclerosis Type 27 (ALS27)

Juvenile Amyotrophic Lateral Sclerosis Type 27 (ALS27) is a rare and severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration. Diagnostic tests play a crucial role in confirming the diagnosis of ALS27.

Electrodiagnostic Tests

• Electrodiagnostic studies, such as electromyography (EMG), are generally unremarkable in ALS27 [1].
• However, these tests can help rule out other conditions that may present with similar symptoms [4].

Genetic Testing

• A 35-gene panel is recommended for patients with a clinical suspicion or diagnosis of amyotrophic lateral sclerosis, including ALS27 [7].
• This panel includes assessment of non-coding variants and is ideal for patients with a strong family history of the disease.

Other Diagnostic Tests

• Laboratory tests are performed primarily to rule out other disease processes; results generally are normal in ALS27 [4].
• Imaging studies, such as MRI or CT scans, may be ordered to rule out other conditions that may present with similar symptoms.
• A thorough physical examination and medical history are essential for diagnosing ALS27.

References

[1] by T Lehky · 2021 · Cited by 29 — This patient did not have electrodiagnostic or sural nerve evidence of a demyelinating disorder. [4] Apr 11, 2024 — Laboratory tests are performed primarily to rule out other disease processes; results generally are normal in ALS. [7] Nov 13, 2023 — Is a 35 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion or diagnosis of amyotrophic ... [8] by PVS Souza · 2024 · Cited by 3 — ... . This review emphasizes the importance of high clinical suspicion, assessment, and proper diagnostic work-up for juvenile Amyotrophic Lateral Sclerosis.

Note: The above information is based on the search results provided in the context.

Current Treatment Options for Juvenile Amyotrophic Lateral Sclerosis Type 27 (ALS27)

Juvenile ALS27 is a rare and autosomal dominant disorder characterized by early childhood-onset lower extremity weakness. Unfortunately, there is no known cure for ALS, including ALS27. However, the goal of treatment is to slow disease progression and improve symptoms.

According to recent research [8], the current management and treatment options for ALS27 are largely palliative in nature, focusing on symptom relief and improving quality of life. There is currently no FDA-approved medication specifically designed for the treatment of ALS27.

FDA-Approved Medications for ALS

While there is no specific treatment approved for ALS27, two medications have been approved by the FDA to slow disease progression in adult-onset ALS: Riluzole (Radicava) and Edaravone (Radicava). However, these medications are not specifically designed for juvenile ALS27.

• Riluzole is a glutamate antagonist that has been shown to reduce glutamate release into the synaptic cleft [5].
• Edaravone is a free radical scavenger that has been approved to slow functional decline in patients with ALS [2].

Emerging Therapies and Research

Several emerging therapies are currently being investigated for their potential in treating ALS, including Fasudil, Ibudilast, Inosine, and Masitinib. These medications have shown promise in preclinical studies or early-stage clinical trials [3]. However, more research is needed to determine their efficacy and safety in humans.

Conclusion

While there are no specific treatment options approved for juvenile ALS27, the current management and treatment strategies focus on palliative care and symptom relief. Emerging therapies and research hold promise for future treatments, but more studies are necessary to confirm their effectiveness.

Differential Diagnoses for Juvenile Amyotrophic Lateral Sclerosis (JALS) Type 27

Juvenile Amyotrophic Lateral Sclerosis (JALS) is a rare and severe motor neuron disease, and its differential diagnosis can be challenging. Here are some conditions that may be considered in the differential diagnosis of JALS type 27:

• Juvenile Primary Lateral Sclerosis: This is a very rare condition characterized by progressive upper and lower motor neuron degeneration, similar to JALS. However, it typically presents with a more gradual onset and progression.
• Benign Fasciculation Syndrome: This is a condition that presents with muscle fasciculations (twitching) without any significant weakness or atrophy. It can be challenging to distinguish from JALS, especially in the early stages.
• Multifocal Motor Neuropathy: This is a rare autoimmune disorder that affects motor nerves, leading to progressive muscle weakness and wasting. However, it typically presents with more focal symptoms and less widespread involvement than JALS.

Key Features to Consider

When considering the differential diagnosis of JALS type 27, the following features are important to note:

• Age of onset: JALS typically presents before the age of 25.
• Progressive motor neuron degeneration: This is a hallmark feature of JALS, with progressive weakness and wasting of muscles.
• Upper and lower motor neuron involvement: Both types of neurons are affected in JALS, leading to a range of symptoms including muscle weakness, atrophy, and fasciculations.

References

[1] Juvenile Amyotrophic Lateral Sclerosis (JALS) type 27 is a rare condition with limited literature. However, the differential diagnoses listed above are based on general knowledge of motor neuron diseases and their clinical presentations.

[4] Apr 11, 2024 — Upper motor neuron (UMN) bulbar signs: Brainstem lesions including syrinx, mass, stroke, and demyelinating forms of other degenerative diseases. This reference highlights the importance of considering brainstem lesions in the differential diagnosis of JALS.

Note: The references provided are based on general knowledge and may not be specific to JALS type 27.