Social Worker Resource Pages

  • Patient and Parent Perspectives on the Use of Nusinersen for Spinal Muscular Atrophy

    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 […]

  • What is Meaningful Change in Spinal Muscular Atrophy?

    A tool that is commonly used to evaluate motor function in spinal muscular atrophy (SMA) patients is the Hammersmith Functional Motor Scale (HFMSE).1 Given the extensive use of this tool, particularly for clinical trial research that aims to identify and develop therapeutic interventions to help those with SMA,2–5 […]

  • Spinal Muscular Atrophy: Awareness and Attitudes

    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 […]

  • Spinal Muscular Atrophy: Effects on Home, School, and Leisure

    Those with spinal muscular atrophy (SMA) face psychological and social challenges that often hinder quality of life.1 Even those who are able to live in their homes and participate in school, employment, and leisure activities are burdened with challenges related to their illness.2 One of the most frequently cited […]

  • Spinal Muscular Atrophy: Psychological Support

    Psychological support for patients and families is a critical but often neglected component of care in Spinal Muscular Atrophy (SMA).1 Families will have psychological support needs that differ depending on where they are in their respective healthcare odysseys, from pre-conception genetic counseling2 to bereavement […]

  • Spinal Muscular Atrophy: Maximizing Quality of Life

    Children with Spinal Muscular Atrophy (SMA) have complex medical needs which can lead to diminished quality of life.1 Historically, patients diagnosed with SMA and their families report significant stress and a low quality of life.2-4 It is incorrect to assume that more severe forms of SMA in which patients may not be […]

  • Spinal Muscular Atrophy: Caregiver Support

    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 […]

  • Zolgensma

    In more than 95% of patients with spinal muscular atrophy (SMA), the disease is caused by a deletion in exon 7 of the Survival Motor Neuron 1 (SMN1) gene located on chromosome 5q13.1,2,3  Because the etiology of most cases of SMA can be traced back to this single gene, the SMN1 gene has been an attractive target […]

  • Signs and Symptoms

    One of the pathological hallmarks of spinal muscular atrophy (SMA) is the degeneration of anterior horn cells in the spinal cord and motor nuclei in the lower brainstem.1 Alpha motor neurons are preferentially affected, so the disease is limited to the motor system rather than the sensory system.2 With this […]

  • Prognosis

    The disease course and prognosis of spinal muscular atrophy (SMA) depends heavily on the clinical classification in a particular patient. For example, the prognosis of children with SMA type 0 is very poor while the prognosis in SMA type 4 patients is relatively good. When discussing prognosis with patients, […]