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Spinal Muscular Atrophy With Respiratory Distress

Overview

Spinal muscular atrophy with respiratory distress, or SMARD1, is an inherited disease found in infants, with symptoms usually starting around 6 weeks of age. Infants can live through childhood with SMARD1 but will require the use of a ventilator. The most prevalent symptoms are respiratory distress and muscle weakness. SMARD1 is rare with approximately 100 diagnosed cases. There is no known treatment or cure.

  • Symptoms

    • Feeding issues
    • Incontinence
    • Irregular heartbeat
    • Loss of deep tendon reflexes
    • Muscle weakness, starting in lower limbs
    • Shortness of breath

    Symptoms show early on in infancy, starting between 6 weeks and 6 months of age, but there are cases that present themselves in childhood. Prenatal symptoms include:

    • Premature birth
    • Low birth weight
    • Stunted growth inside uterus
  • Prevention

    SMARD1 is inherited and cannot currently be prevented.

  • Risk Factors

    SMARD1 is caused by recessive mutations in the IGHMBP2 gene. Both parents need to be carriers of the mutated gene, each having a mutation on one of their two IGHMBP2 genes. Parents who are carriers will have a 25% chance of having a child who suffers from SMARD1 and a 50% chance of having a child who is a carrier of the recessive gene.

  • Diagnosis

    • When the infant has respiratory distress, a higher diaphragm is often an indicator of SMARD1.
    • Genetic testing will detect the presence of mutations in the IGHMBP2 gene.
    • A diagnosis can be made once certain symptoms, including respiratory distress that is fast progressing and severe, are present during infancy.
  • Treatment

    There is currently no known cure or treatment. Many children with SMARD1 will not live past their first year, but those who do live past age 1 use a ventilator and require a tracheostomy. These older children will also need to use a wheelchair due to muscle weakness. Treatment for SMARD1 focuses on alleviating the patient’s current symptoms.

    • Patients may need help with getting proper nutrients because of difficulty swallowing and digesting.
    • Proper ventilation allows the lungs to rest as much as possible, for instance, when the patient is sleeping.
  • Follow-up Care

    • Counseling is recommended for the affected families.
    • There is still little research available to predict life expectancy, but there are a few adults living with SMARD1.
  • Why Choose UK HealthCare for Neuromuscular Disorders

    If you or a loved one is living with a neuromuscular disorder, neuromuscular doctors with Kentucky Neuroscience Institute can offer the latest and most sophisticated care options. UK HealthCare’s ALS Multidisciplinary Clinic earned accreditation as a Certified Treatment Center of Excellence from the ALS Association. This honor is awarded to facilities that demonstrate competency meeting the clinical care and treatment standards set forth by the ALS Association. These facilities must also take part in ALS research and a comprehensive site review.

    Additionally, the Kentucky Neuroscience Institute is ranked 44th in the country by U.S. News & World Report, and our physicians are regularly named to the Best Doctors in America List.