Diagnosis and Tests   

    
There are four key elements to establishing a firm diagnosis of spinal 
muscular atrophy:
  1. Clinical history and physical examination
  2. Electromyography and nerve conduction studies
  3. Muscle biopsy
  4. Genetic testing
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Medical Issues

There are several topics to become familiar with once diagnosed with
SMA, there are several free brochures available from Families of SMA website. Some of the topics include Genetics, Respiratory care, Nutrition, Physical and Occupational care and Palliative care.


Genetics

How is SMA inherited?

5q-SMA is an autosomal recessive genetic disorder. It is caused by mutations in the SMN1 (Survival Motor Neuron) gene that is found on chromosome 5 (hence the name 5q). To develop SMA, an individual must inherit two faulty SMN1 genes, one from each parent.

Because the parents of an affected child typically have only one faulty SMN1gene each, the parents do not express the trait and do not have
SMA. Thus, the product of one SMN1 gene is sufficient for normal function. This person is described as a carrier. Each parent of a child with SMA is almost always.
   
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Respiratory care

Respiratory (breathing) problems are the leading cause of illness for children with SMA.  They are the most common cause of death for children with SMA Type I and SMA Type II.  Respiratory care interventions are essential to the survival and comfort of children with SMA.  
    
As a parent, it is very important that you watch for breathing problems in your 
child. You will want to talk with the doctors, including a pediatric pulmonary specialist, to develop respiratory care goals that are personalized for your child. (from the Consensus Statement for the Standard of Care in SMA).
   
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Physical Therapy and Occupational Therapy

Muscle weakness, the most obvious symptoms of SMA, varies from person to person, depending on disease severity.  Care Plans for managing muscle weakness of the arms, legs, trunk and neck are important for helping your child achieve his or her highest level of function and independence Physical therapists, occupational therapists, speech therapists and /or rehabilitation specialists are the experts who can help you and the rest of the medical team design the best plan for your child. 

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For more information also visit eMedicine and read article: 
                                                                                                                                                                                                                                                   
Nutrition is critically important for maintaining muscle mass and strength and minimizing fatigue in SMA patients. Intermittent monitoring of dietary intake in consultation with a dietician experienced in management of patients with neuromuscular conditions or metabolic disorders can be extremely helpful.
 
Children may be deficient in carnitine due to decreased intake of meat related to jaw contractures interfering with chewing. Swallowing problems sometimes be difficult to detect, and in weaker children or in those with borderline nutritional status or frequent respiratory illness, swallowing studies should be performed on a regular basis to ensure that silent aspiration isn't contributing to respiratory problems.
 

SMA Nutrition from Dr. Bach's book, "Management of Patients With Neurological Disorders."

SMA Nutrition by Dr. John Bach, Dr. Irving Haber, Jill Gaydos BS.PDF


Additional information on nutrition can be found on the CURE SMA wedsite


 Consensus Statement for Standard of Care in Spinal Muscular Atrophy

Ching H. Wang, MD, PhD, Richard S. Finkel, MD, Enrico S. Bertini, MD, Mary Schroth, MD, Anita Simonds, MD, Brenda Wong, MD, Annie Aloysius, MRCSLT, HPC, Leslie Morrison, MD, Marion Main, MCSP, MA, Thomas O. Crawford, MD, Anthony Trela, BS, and Participants of the International Conference on SMA Standard of Care

This is the original consensus statement for standards of care in SMA written by participants of the International Conference on SMA Standard of Care. It was published in the Journal of Child Neurology. Available in English only.

Click here for full Article


A Family Guide to the Consensus Statement for Standard of Care in Spinal Muscular Atrophy

This Family Guide to the Consensus Statement for Standard of Care in Spinal Muscular Atrophy was prepared by SMA Advocates for families affected by SMA. The full text of the Consensus Statement (22 pages) was published in the August 2007 issue of the Journal of Child Neurology and can be found on the journal’s website. A link to the document is provided on the last page of this Guide.

Click here for full Article



Some of the Main Doctors and Researchers


Ching Wang, MD, PhD 
CPSST Neurology MD, PhD  Neurology Department





3533 S. Alameda St.
Corpus Christi, TX 78411
Phone: (361) 694-6747
Fax: (361) 694-6500

Send an email                                                                More information


Brenda Wong, MD     
Division of Neurology
Cincinnati Children's Hospital Medical Center




3333 Burnet Avenue
Cincinnati, Ohio 45229-3039
Phone: (513) 636-4222



Thomas Crawford, MD
Associate Professor of Neurology and Pediatrics Johns Hopkins Pediatric Specialty Clinic

200 N. Wolfe Street                                Baltimore, MD 21287                                    Neurology: (410) 955-4259                                         MDA Clinic: (410) 955-6435   

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Mary K. Schroth, MD 
Pediatric Pulmonary Center University of Wisconsin Medical School

K4/942 Clinical Science Center
600 Highland Avenue Madison, 
Wisconsin 53792-998 
Phone:(608) 263-6420                                                   
Send an email                                             


Kathryn Swoboda, MD

Katherine B. Sims MD Endowed Chair in Neurogenetics   



Simches Research Building                                        185 Cambridge Street 5-240                                    Boston MA 02114                                                     Phone: (617) 726-5732  

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John R. Bach, MD Physical Medicine and Rehabilitation University Hospital, Newark 




150 Bergen Street, Room B261
Newark, New Jersey 07101
Phone: (973) 972-7195

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