4 free views remaining today

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

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

Additional Information

rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_574
owl#annotatedSource
t331996
oboInOwl#hasOBONamespace
disease_ontology
rdf-schema#comment
OMIM mapping confirmed by DO. [SN].
oboInOwl#id
DOID:0050529
core#notation
DOID:0050529
oboInOwl#hasDbXref
UMLS_CUI:C1838230
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.
rdf-schema#subClassOf
t332493
oboInOwl#inSubset
http://purl.obolibrary.org/obo/doid#DO_rare_slim
RO_0002452
http://purl.obolibrary.org/obo/SYMP_0000363
IDO_0000664
http://purl.obolibrary.org/obo/GENO_0000148
RO_0002488
http://purl.obolibrary.org/obo/HP_0003581
relatedICD
http://example.org/icd10/G12.1
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.