Spinal Muscular Atrophy Type 2
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Learn About Spinal Muscular Atrophy Type 2

What is the definition of Spinal Muscular Atrophy Type 2?
Spinal muscular atrophy type 2 (SMA2) is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Babies with SMA2 can sit without support, however, they cannot stand or walk independently. Feeding and breathing problems may also develop. SMA2 is caused by changes (pathogenic variants also called genetic changes) in the SMN1 gene and is inherited in an autosomal recessive manner. Diagnosis of SMA2 is suspected by symptoms and confirmed by genetic testing.
What are the alternative names for Spinal Muscular Atrophy Type 2?
  • Spinal muscular atrophy type 2
  • Dubowitz disease
  • Muscular atrophy, spinal, infantile chronic form
  • Muscular atrophy, spinal, intermediate type
  • SMA II
  • SMA2
  • Spinal muscular atrophy type II
Who are the top Spinal Muscular Atrophy Type 2 Local Doctors?
Elite in Spinal Muscular Atrophy Type 2
Neurology
Elite in Spinal Muscular Atrophy Type 2
Neurology
Referral may be required

Office

300 Medical Plz Ste B-200, 
Los Angeles, CA 
Languages Spoken:
English
Offers Telehealth

Perry Shieh is a Neurologist practicing medicine in Los Angeles, California. Dr. Shieh is rated as an Elite provider by MediFind in the treatment of Spinal Muscular Atrophy Type 2. He is also highly rated in 47 other conditions, according to our data. His clinical expertise encompasses Duchenne Muscular Dystrophy, Spinal Muscular Atrophy (SMA), Becker Muscular Dystrophy, and Tubular Aggregate Myopathy.

Elite in Spinal Muscular Atrophy Type 2
Elite in Spinal Muscular Atrophy Type 2
Referral may be required

St. Jude Children's Research Hospital

262 Danny Thomas Pl, 
Memphis, TN 
Languages Spoken:
English
Offers Telehealth

Richard Finkel is a Pediatrics provider practicing medicine in Memphis, Tennessee. Dr. Finkel is rated as an Elite provider by MediFind in the treatment of Spinal Muscular Atrophy Type 2. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Spinal Muscular Atrophy (SMA), Primary Lateral Sclerosis, Spinal Muscular Atrophy Type 3, and Spinal Muscular Atrophy Type 2.

 
 
 
 
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Elite in Spinal Muscular Atrophy Type 2
Pediatric Neurology
Elite in Spinal Muscular Atrophy Type 2
Pediatric Neurology
Referral may be required

Department Of Neurology

300 Longwood Ave, 
Boston, MA 
Languages Spoken:
English

Basil Darras is a Pediatric Neurologist practicing medicine in Boston, Massachusetts. Dr. Darras is rated as an Elite provider by MediFind in the treatment of Spinal Muscular Atrophy Type 2. He is also highly rated in 42 other conditions, according to our data. His clinical expertise encompasses Spinal Muscular Atrophy (SMA), Primary Lateral Sclerosis, Spinal Muscular Atrophy Type 2, Spinal Muscular Atrophy Type 1, and Gastrostomy.

What are the latest Spinal Muscular Atrophy Type 2 Clinical Trials?
Foundation Fighting Blindness My Retina Tracker Registry

Summary: The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on the...

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Evaluation of the Reproducibility of a Fatigability Test Fitted to Patients With Spinal Muscular Atrophy

Summary: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the degeneration of motor neurons in the anterior horn of the spinal cord, due to the absence of the SMN1 gene and the resulting lack of SMN protein. Some patients with particularly severe forms (types 0 or 1) die before the age of 2 in the absence of treatment, while others retain autonomous walking throughout...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center