Spinal Muscular Atrophy

Spinal muscular atrophy is a group of inherited neuromuscular diseases that cause muscle weakness and can result in life-threatening symptoms. The disorder mostly affects babies and children.

At Allegheny Health Network (AHN) Neuroscience Institute, our physicians have specialized training in diagnosing and treating this complex neuromuscular disorder. We provide a precise diagnosis and help manage your child’s symptoms using the most effective therapies available.

Spinal muscular atrophy symptoms

Symptoms depend on the type of spinal muscular atrophy:

  • Type 1 spinal muscular atrophy: Also known as Werdnig-Hoffman disease, this condition is noticeable soon after birth or within the first few months of a baby’s life. Symptoms include floppy arms and legs, feeble movements, and problems eating and breathing.
  • Type 2 spinal muscular atrophy: This condition usually begins when a child is between 6 and 18 months of age. It may affect a child’s legs more than the arms. Children with this type of spinal muscular atrophy may be able to sit, stand, or walk, depending on the severity of the symptoms they experience.
  • Type 3 spinal muscular atrophy: Also called Kugelberg-Welander disease, symptoms generally appear between ages 2 and 17. Common symptoms include problems running, climbing steps, or rising from a chair.
  • Type 4 spinal muscular atrophy: Symptoms often do not show up until middle age. Symptoms may include muscle weakness, trembling or twitching, and minor breathing problems.

Diagnosing spinal muscular atrophy

At AHN, our physicians use the latest tests to pinpoint a precise diagnosis, including:

  • Electromyogram (EMG): This test measures the electrical activity of muscles.
  • Nerve conduction studies: A nerve conduction velocity test measures the nerves’ ability to send electrical signals. We often perform it along with an EMG to help determine whether symptoms are related to nerves or muscles.
  • Blood tests: Blood tests may indicate or rule out various causes of the symptoms.
  • Genetic tests: These tests look for certain genetic mutations that can cause spinal muscular atrophy.
  • Muscle biopsy: A physician removes a tiny piece of muscle for further analysis in a laboratory.

Get expert spinal muscular atrophy treatment at Allegheny Health Network

While there is no cure for spinal muscular atrophy, treatments can help manage symptoms and prevent complications. Spinal muscular atrophy can affect children to varying degrees.

  • Type 1: This type of spinal muscular atrophy may cause respiratory failure and death in babies.
  • Type 2: Children with type 2 spinal muscular atrophy may live into adolescence or early adulthood.
  • Type 3 and 4: Adults with type 3 and 4 spinal muscular atrophy often have full functional abilities for many years before needing supportive devices or physical therapy.

We understand the impact spinal muscular atrophy can have on your child’s life. Our specialists work with you to tailor a treatment plan to your child’s needs. This collaborative approach provides a high level of personalized care.

Treatment options include:

  • Medication: We help determine which medications would offer the best results.
  • Physical therapy: Certain exercises or activities may strengthen muscles so it’s easier to complete daily activities. Our knowledgeable, caring physical therapists customize a physical therapy plan to each patient’s needs.
  • Orthopaedic devices: Devices such as braces offer support in everyday movements and help prevent injuries.

Contact us

To schedule an appointment or learn more about AHN neuroscience services, call (412) 359-8850.

If you're an existing patient, you can also call (412) DOCTORS (412) 362-8677 in Pittsburgh or request an appointment with AHN neuroscience services.