Genetic Counselor Resource Pages

  • Motor Unit Number Index as a Biomarker for Spinal Muscular Atrophy

    Major challenges in the clinical care of those with spinal muscular atrophy (SMA) are determining patients’ clinical stages, identifying exactly how the disease is progressing, and distinguishing SMA from other, muscular disorders. To help overcome these difficulties, researchers are actively seeking improved […]

  • 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 […]

  • Spinal Muscular Atrophy and the Role of MicroRNA

    Mutations in the survival motor neuron 1 gene (SMN1), which result in reduced expression and lower levels of the full-length SMN protein, are responsible for spinal muscular atrophy (SMA).1 Given the role that microRNAs (miRNAs) play in gene expression, it is perhaps not surprising that they are implicated in this […]

  • Eosinophilic Oesophagitis in Spinal Muscular Atrophy

    Though rare, spinal muscular atrophy (SMA) does sometimes co-occur with other rare conditions. Both SMA type 2 and eosinophilic oesophagitis (EoE) occur in approximately 0.16-4 per 10,000 people,1–4 but the conditions have also been simultaneously observed in individual patients. A recent publication even […]

  • Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy

    Spinal muscular atrophy (SMA) that co-occurs with progressive myoclonic epilepsy (PME) is a rare inherited syndrome referred to as SMA-PME. It is caused by a mutation in the ASAH1 gene, which is a gene that encodes acid ceramidase.1 ASAH1 is located on chromosome 8, and the mutation associated with SMA-PME is a […]

  • Disease Modifying Therapies in Spinal Muscular Atrophy: Preclinical Products

    The therapies that are being developed for spinal muscular atrophy (SMA) generally fall into two categories: those that aim to increase levels of survival motor neuron (SMN) protein and those that are SMN-independent.1 The therapies that aim to increase SMN protein levels do so by modulating the transcription of SMN2, […]

  • Abnormal Fatty Acid Oxidation in Spinal Muscular Atrophy

    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 […]

  • 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 […]