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adult spinal muscular atrophy
ICD-10 Codes
Related ICD-10:
Description
Adult Spinal Muscular Atrophy (SMA) Description
Adult-onset SMA, also known as SMA type 4, is a rare and progressive neuromuscular disorder that affects adults. The condition is characterized by muscle weakness, wasting, and degeneration of the spinal cord and peripheral nerves.
Common Symptoms:
- Muscle weakness, particularly in the arms and legs [7]
- Fatigue [9]
- Trouble breathing [9]
- Decreased or absent deep tendon reflexes [2]
- Loss of muscle tone [2]
Other Characteristics:
- Progressive loss of coordination of gait, hands, speech, and eye movements [11]
- Degeneration of the spinal cord and peripheral nerves [5, 8]
- Inherited neuromuscular disorder characterized by loss of nerve cells in the spinal cord called lower motor neurons [5]
Important Notes:
- Adult-onset SMA can affect individuals at any age, but symptoms often appear later in life [9]
- The condition is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscles) [8]
Additional Characteristics
- Fatigue
- Trouble breathing
- Muscle weakness, particularly in the arms and legs
- Decreased or absent deep tendon reflexes
- Loss of muscle tone
Signs and Symptoms
Symptoms of Adult Spinal Muscular Atrophy (SMA)
Adult-onset spinal muscular atrophy (SMA) can cause a range of symptoms, including:
- Fatigue [4]
- Muscle weakness [6][7]
- Trouble breathing [4][7]
- Scoliosis [5]
- Joint contractures (chronic shortening of muscles and tendons) [5]
- Respiratory infections [5]
These symptoms can vary in severity and may be mild or disabling. In some cases, only the upper arms and legs are affected.
Progression of Symptoms
The loss of lower motor neurons leads to progressive muscle weakness, muscle wasting (atrophy), and low muscle tone (hypotonia) that is typically more pronounced in the lower limbs [7].
Importance of Early Diagnosis
Delayed diagnosis can lead to increased loss of muscle strength, endurance, and functional abilities [9]. It's essential to seek medical attention if symptoms persist or worsen over time.
Note: The information provided above is based on search results from reputable sources.
Additional Symptoms
- Scoliosis
- Trouble breathing
- Respiratory infections
- Joint contractures
- muscle weakness
- fatigue
Diagnostic Tests
Spinal muscular atrophy (SMA) is a genetic disorder that affects muscle strength and movement. Diagnostic tests for adult SMA are crucial to confirm the diagnosis and rule out other conditions.
Blood Tests
A simple blood draw test can identify an estimated 95% of all SMA cases by testing for deletion or mutation of both SMN1 genes [5]. This test is a genetic blood test that detects changes in the SMN1 gene, which is responsible for producing the survival motor neuron protein (SMN) [9].
Genetic Testing
Genetic testing is the main test that can confirm SMA. This blood test can identify problems with the SMN1 gene and confirm 95% of SMA cases [2]. Genetic testing can also
Additional Diagnostic Tests
- Blood Tests
- Genetic Testing
Treatment
Treatment Options for Adult Spinal Muscular Atrophy (SMA)
Adults with spinal muscular atrophy (SMA) have several treatment options available to manage their condition. According to recent approvals and research, here are some key points:
- Nusinersen (Spinraza): This medication is FDA-approved for both pediatric and adult patients with genetically confirmed SMA. It works by increasing the production of the SMN protein, which is essential for muscle function [3][4].
- Risdiplam (Evrysdi): Another approved therapy for SMA, risdiplam also targets the SMN protein to improve muscle strength and function in adults [5][6].
- Zolgensma: This gene therapy replaces the faulty SMN1 gene responsible for SMA. While primarily used in pediatric patients, it may be considered for adult treatment on a case-by-case basis [4].
Key Considerations
When treating adult SMA, healthcare providers consider factors such as:
- Age and overall health
- Severity of symptoms
- Presence of other medical conditions
- Potential side effects and interactions with other medications
It's essential to consult with a healthcare professional for personalized guidance on managing adult SMA.
References: [1] Crisafulli S (2023) - [Context 1] [2] FDA Approval for Evrysdi (Risdiplam) [Context 2] [3] Nusinersen (Spinraza) for SMA [Context 3] [4] Zolgensma Gene Therapy [Context 4] [5] Risdiplam (Evrysdi) for SMA [Context 5] [6] FDA Approval for Spinraza [Context 6]
Recommended Medications
- Zolgensma
- Nusinersen (Spinraza)
- Risdiplam (Evrysdi)
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Spinal muscular atrophy (SMA) in adults can be challenging to diagnose due to its similarity to other neuromuscular disorders. Here are some conditions that should be considered in the differential diagnosis of adult SMA:
- Amyotrophic Lateral Sclerosis (ALS): Also known as Lou Gehrig's disease, ALS is a progressive neurodegenerative disorder that affects nerve cells in the brain and spinal cord, leading to muscle weakness and atrophy. [1]
- Congenital Muscular Dystrophy: This condition is characterized by muscle weakness and wasting due to genetic mutations affecting muscle function. While it typically presents in infancy or early childhood, some cases may be diagnosed later in life. [2]
- Congenital Myopathies: These are a group of rare genetic disorders that
Additional Differential Diagnoses
- Congenital Myopathies
- congenital muscular dystrophy
- amyotrophic lateral sclerosis
Additional Information
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- https://w3id.org/def/predibionto#has_symptom_574
- owl#annotatedSource
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- OMIM mapping confirmed by DO. [SN].
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- rdf-schema#label
- adult spinal muscular atrophy
- oboInOwl#hasExactSynonym
- SPINAL MUSCULAR ATROPHY, TYPE IV
- IAO_0000115
- A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
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- http://purl.obolibrary.org/obo/GENO_0000148
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- relatedICD
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