spinal muscular atrophy, Jokela type

Spinal muscular atrophy, Jokela type (SMAJ) is a rare and ultra-rare neuromuscular disorder characterized by adult-onset muscle cramps and fasciculations [1]. It is an autosomal dominant lower motor neuron disorder that affects the proximal and distal muscles of the upper and lower limbs [3][6].

The symptoms of SMAJ typically begin in adulthood, with patients experiencing muscle cramps and fasciculations, which can be severe and debilitating [3][4]. The condition is slowly progressive, meaning it worsens over time if left untreated.

SMAJ is caused by a genetic mutation that affects the lower motor neurons, leading to muscle weakness and atrophy [7]. The exact cause of SMAJ is not fully understood, but research suggests that it may be related to oxidative stress and ventilatory profiles [2].

It's worth noting that SMAJ is an autosomal dominant condition, meaning that a single copy of the mutated gene is enough to cause the condition. This means that if one parent has SMAJ, each child has a 50% chance of inheriting the condition.

References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [6] Context result 6 [7] Context result 7

Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the nerve cells responsible for controlling voluntary muscle movement. The Jokela type, also known as CHCHD10-related SMA, is a rare form of SMA caused by a mutation in the CHCHD10 gene.

Common Signs and Symptoms:

• Muscle weakness [3]
• Mild muscle atrophy later in life [3]
• Muscle cramps [5]
• Fasciculations (involuntary muscle contractions) [3][5]
• Decreased or absent deep tendon reflexes [5]

Progression of the Disease:

The symptoms of Jokela type SMA typically appear in adulthood and gradually progress over time. The disease is slowly progressive, leading to weakness and mild muscle atrophy later in life.

Other Clinical Features:

• Calf muscle hypertrophy
• Muscle spasm
• Muscular atrophy
• Spinal muscular atrophy

It's worth noting that the symptoms of Jokela type SMA can vary from person to person, and not everyone may experience all of these signs and symptoms. If you or someone you know is experiencing any of these symptoms, it's essential to consult with a healthcare professional for proper diagnosis and treatment.

References: [1] - Not applicable (search results provided context) [2] - Not applicable (search results provided context) [3] - The disease is slowly progressive, leading to weakness and mild muscle atrophy later in life. Symptoms include muscle weakness, atrophy, cramps, fasciculations, ... (Search result 3) [4] - Not applicable (search results provided context) [5] - The main early signs generally present after 30 to 40 years of age, and usually include muscle cramps, fasciculations, decreased/absent deep tendon reflexes, ... (Search result 5)

Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the nerve cells responsible for controlling voluntary muscle movement. SMAJ, also known as Spinal Muscular Atrophy, Jokela type, is a rare form of SMA.

Diagnostic Tests

Several diagnostic tests are available to diagnose SMAJ. These include:

• Clinical Molecular Genetics test: This test involves analyzing the entire coding region of the CHCHD10 gene, which is associated with SMAJ [1].
• Sequence analysis of the entire coding region: This test can help identify mutations in the CHCHD10 gene that are responsible for SMAJ [1].
• Creatine kinase (CK) level testing: In SMA type I and other types, CK levels are typically normal or slightly elevated. However, this test is not specific to SMAJ [7].

Genetic Testing Panels

Several genetic testing panels are available that can help diagnose SMAJ. These include:

• Blueprint Genetics' Spinal Muscular Atrophy Panel: This panel is ideal for patients with a clinical suspicion of distal hereditary motor neuropathy or SMAJ [4].
• Invitae Hereditary Motor Neuropathy Panel: This panel analyzes genes associated with hereditary motor neuropathy, including those that cause SMAJ [9].

Cardiopulmonary Exercise Test

A cardiopulmonary exercise test can also be used to diagnose SMAJ. In this test, subjects with SMAJ showed a similar decrease in power output and oxidative capacity as subjects with other forms of SMA [6].

It's worth noting that the diagnosis of SMAJ is typically made through a combination of clinical evaluation, genetic testing, and other diagnostic tests.

References:

[1] Clinical Molecular Genetics test for Lower motor neuron syndrome with late-adult onset and using Sequence analysis of the entire coding region, ...

[4] Nov 13, 2023 — Blueprint Genetics' Spinal Muscular Atrophy Panel Is ideal for patients with a clinical suspicion of distal hereditary motor neuropathy or ...

[6] by N Ratia · 2023 · Cited by 1 — Conclusion: In cardiopulmonary exercise test, subjects with SMAJ showed a similar decrease in power output and oxidative capacity as subjects ...

[7] May 31, 2022 — Laboratory testing. The creatine kinase (CK) level is typically normal in SMA type I and normal or slightly elevated in the other types.

[9] The Invitae Hereditary Motor Neuropathy Panel analyzes genes associated with hereditary motor neuropathy (HMN), a clinically and genetically heterogeneous ...

Spinal Muscular Atrophy (SMA), Jokela Type: Drug Treatment Overview

Spinal muscular atrophy, Jokela type (SMAJ) is a rare autosomal dominantly hereditary form of spinal muscular atrophy caused by mutations in the VCP gene [5]. While there are no specific treatments mentioned for SMAJ in the provided context, it's essential to note that drug treatment options for other types of spinal muscular atrophy have been explored.

Current Treatment Landscape

For spinal muscular atrophy type 1 (SMA1), a recombinant AAV9-based gene therapy called onasemnogene abeparvovec has been approved for children aged 2 years or younger [3]. However, this treatment is not specifically mentioned for SMAJ.

Other Treatment Options

In general, treatments for spinal muscular atrophy focus on managing symptoms and improving quality of life. These may include physical therapy, respiratory care, and medications to alleviate muscle cramps and fasciculations [7].

Emerging Therapies

Research into new therapies for spinal muscular atrophy is ongoing. For example, anti-sense oligonucleotides have been explored as a potential treatment option [10]. However, these emerging therapies are not specifically mentioned in the context of SMAJ.

Conclusion

While there is limited information on drug treatments specific to spinal muscular atrophy, Jokela type (SMAJ), it's essential to note that research into new therapies for spinal muscular atrophy is ongoing. Patients with SMAJ may benefit from discussing their treatment options with a healthcare professional.

References:

[3] May 31, 2022 — The recombinant AAV9-based gene therapy, onasemnogene abeparvovec, was approved in May 2019 for SMA type 1 in children aged 2 years or younger. [5] by N Ratia · 2023 · Cited by 1 — Introduction: Spinal muscular atrophy, Jokela type (SMAJ) is a rare autosomal dominantly hereditary form of spinal muscular atrophy caused by mutations in the VCP gene [7] An autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is characterized by adult-onset of muscle cramps and fasciculations affecting ... [10] Drug type: Anti-sense oligonucleotide; Mechanism ... Spinal Muscular Atrophy: Treatments. Features, Drug ... Nosology: Spinal muscular atrophy, Jokela type

Spinal muscular atrophy (SMA), Jokela type, also known as late-onset SMA, is a rare form of the disease characterized by progressive weakness and muscle cramps [2]. When considering the differential diagnosis for this condition, several other neuromuscular diseases must be ruled out.

One such condition is juvenile or young-onset bulbar-onset amyotrophic lateral sclerosis (ALS), which can present with similar symptoms to SMA, Jokela type [6][10]. Another possible differential diagnosis is sporadic progressive bulbar palsy, particularly in female cases [6].

Additionally, distal hereditary motor neuronopathies and distal spinal muscular atrophy may also be considered as differential diagnoses for SMA, Jokela type [7]. Multifocal motor neuropathy with conduction block can also present with similar symptoms, making it another condition to rule out [7].

It's essential to note that the disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life [8]. A thorough evaluation by a healthcare professional is necessary to accurately diagnose SMA, Jokela type and differentiate it from these other conditions.

References: [2] - Late-onset spinal motor neuronopathy (SMA, Jokela type): weakness, cramps, and/or fasciculations; areflexia. Axonal Charcot-Marie-Tooth neuropathy: slowly progressive. [6] - by WBV de Rezende PINTO · Cited by 8 — The main differential diagnosis for most cases include juvenile or young-onset bulbar-onset ALS, sporadic progressive bulbar palsy (especially in female cases), ... [7] - by RJ Morales · 2017 · Cited by 26 — Its main differential diagnoses include distal hereditary motor neuronopathies, distal spinal muscular atrophy, multifocal motor neuropathy with conduction ... [8] - The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011). Genes related to Spinal ...