Urologist Resource Pages

  • Patient and Parent Perspectives on the Use of Nusinersen for Spinal Muscular Atrophy
    by Nisha Cooch, PhD on January 28, 2019 at 3:01 pm

    At the end of 2016, the U.S. Food and Drug Administration (FDA) approved nusinersen for the treatment of spinal muscular atrophy (SMA).1 Because of the high threshold for FDA approval, an abundance of data on nusinersen and its physiological effects on SMA patients has been collected in recent years. However, given […]

  • Spinal Muscular Atrophy: Awareness and Attitudes
    by Michael Nace on December 20, 2018 at 8:24 pm

    There is a paucity of information on awareness of and attitudes towards spinal muscular atrophy (SMA) and medical approaches to the disease.1,2 However, research into what is known about SMA has revealed that the public is largely unfamiliar with SMA, and even physicians and other healthcare providers have a limited […]

  • Abnormal Fatty Acid Oxidation in Spinal Muscular Atrophy
    by Michael Nace on December 4, 2018 at 5:17 pm

    Fatty acids are an important source of cellular energy, and deficiencies in fatty acids and their oxidation can lead to a variety of health issues, including liver dysfunction, cardiomyopathy, skeletal myopathy and hepatic disease.1 Cancer studies have shown that excessive fatty acid oxidation can induce muscle […]

  • Nephrolithiasis (Kidney Stones) in Spinal Muscular Atrophy
    by Michael Nace on November 28, 2018 at 2:55 pm

    Nephrolithiasis is not a classic or well-documented symptom of spinal muscular atrophy (SMA). Nonetheless, anecdotal reports from physicians, patients, and caregivers suggest that patients with SMA may suffer from kidney stones more frequently than an otherwise healthy population of children/young adults.  Kidney […]

  • Spinal Muscular Atrophy: Gastrointestinal Access
    by Michael Nace on October 15, 2018 at 6:58 pm

    Spinal Muscular Atrophy (SMA) is a degenerative neuromuscular disease that, in its most severe manifestations (i.e., SMA types 0 and 1), will progress to bulbar paralysis.1 Some clinicians suggest that gastroesophageal reflux and aspiration risk are universal features in SMA type 1. 2,3  A current consensus […]

  • Gastroesophageal Reflux Disease (GERD) in Spinal Muscular Atrophy
    by Michael Nace on October 8, 2018 at 10:03 pm

    In a survey of patients with Spinal Muscular Atrophy (SMA), more than half of caregivers reported gastroesophageal reflux disease (GERD), and gastroesophageal motility issues are well-documented in patients with progressive neuromuscular disease.1,2 Esophageal dysmotility and reflux is inevitable in the most severe […]

  • Enuresis and Urinary Incontinence in SMA
    by Michael Nace on October 8, 2018 at 9:25 pm

    Involuntary wetting is one of the most common problems of childhood. One in 10 seven year-old children, for example, experience bedwetting, and about 6% of seven-year-olds wet themselves during the day.1 There is evidence to suggest, however, that the rate of enuresis and urinary incontinence in children and […]

  • Spinal Muscular Atrophy: Caregiver Support
    by Michael Nace on October 4, 2018 at 7:52 pm

    Caregivers of patients with Spinal Muscular Atrophy (SMA) report neglected aspects of their lives.1 Caregivers will need different kinds of support depending on factors such as the specific type of SMA their child has, whether they have other children, whether they intend to have future pregnancies, their […]

  • Spinal Muscular Atrophy: Muscle Biopsy
    by Michael Nace on September 17, 2018 at 1:46 pm

    Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disease associated with typically proximal muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord.1  With the widespread use of genetic techniques to diagnose SMA, clinicians now rarely use pathology specimens to […]

  • Spinal Muscular Atrophy: Pain
    by Michael Nace on September 4, 2018 at 7:48 pm

    Spinal Muscular Atrophy (SMA) is a congenital motor neuron degenerative disorder resulting in weakness, low tone, and when presenting in early life, death.1 Though some investigators have seen evidence of sensory nerve death,2 SMA is typically considered to be a motor disease without a significant a sensory neuropathy […]