Spinal Muscular Atrophy, Late-Onset, Finkel Type

Last update 01 Nov 2024

Basic Info

Synonyms

Autosomal dominant adult-onset proximal SMA, Autosomal dominant adult-onset proximal spinal muscular atrophy, Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)

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Introduction

A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13.

100 Clinical Results associated with Spinal Muscular Atrophy, Late-Onset, Finkel Type

100 Translational Medicine associated with Spinal Muscular Atrophy, Late-Onset, Finkel Type

0 Patents (Medical) associated with Spinal Muscular Atrophy, Late-Onset, Finkel Type

Literatures (Medical) associated with Spinal Muscular Atrophy, Late-Onset, Finkel Type

01 Aug 2024·Neurology Clinical Practice

Spinal Muscular Atrophy Update in Best Practices

Article

Author: Gibbons, Melissa A ; Ionita, Cristian ; Kuntz, Nancy L ; Servais, Laurent ; Neil Knierbein, Erin ; Vázquez-Costa, Juan F ; Lakhotia, Arpita ; Sejersen, Thomas ; Castro, Diana ; Schroth, Mary ; Deans, Jennifer ; Arya, Kapil ; Scoto, Mariacristina ; Waldrop, Megan A ; De Vivo, Darryl C ; Tian, Cuixia

Background and ObjectivesSpinal muscular atrophy (SMA) is an autosomal recessive progressive neurodegenerative primary motor neuron disorder caused by biallelic variants of the survival motor neuron 1 (SMN1) gene. The most recent SMA best practice recommendations were published in 2018 shortly after the approval of the first SMN-enhancing treatment. The availability of disease-modifying therapies for 5q SMA and implementation of SMA newborn screening (NBS) has led to urgency to update the SMA best practice recommendations for diagnosis and to reevaluate the current classification of SMA. In addition, the availability of disease-modifying therapies has opened the door to explore improved diagnosis of adult-onset SMA.MethodsA systematic literature review was conducted on SMA NBS. An SMA working group of American and European health care providers developed recommendations through a modified Delphi technique with serial surveys and virtual meeting feedback on SMA diagnosis to fill information gaps for topics with limited evidence. A community working group of an individual with SMA and caregivers provided insight and perspective on SMA diagnosis and support through a virtual meeting to guide recommendations.ResultsThe health care provider working group achieved consensus that SMA NBS is essential to include in the updated best practice for SMA diagnosis (100%). Recommendations for the following are described: characterizing NBS-identified infants before treatment; minimum recommendations for starting or offering SMA NBS in a state or country; recommendations for activities and services to be provided by an SMA specialty care center accepting SMA NBS referrals; and recommendations for partnership with individuals with SMA and caregivers to support NBS-identified infants and their caregivers. Limited data are available to advance efficient diagnosis of adult-onset SMA.DiscussionUpdating best practice recommendations for SMA diagnosis to include SMA NBS implementation is essential to advancing care for individuals with SMA. In addition to testing, processes for the efficient management of positive newborn screen with access to knowledgeable and skilled health care providers and access to treatment options is critical to successful early diagnosis. Additional evidence is required to improve adult-onset SMA diagnosis.

01 Oct 2023·Neuropathology

Myopathic changes caused by protein aggregates in adult‐onset spinal muscular atrophy

Author: Ueda, Mitsuharu ; Nishino, Ichizo ; Nagatoshi, Akihito ; Yamashita, Satoshi ; Takeuchi, Yosuke

Spinal muscular atrophy (SMA), an autosomal‐recessive lower motor neuron disease, causes progressive proximal muscle waste and weakness. It remains unclear whether myopathic changes are involved in pathogenesis. We encountered a patient with adult‐onset SMA caused by a homozygous deletion in exon 7 of the survival motor neuron 1 (SMN1) gene who had had four copies of SMN2 exon 7. Muscle biopsy showed neurogenic features of groups of atrophic fibers, fiber‐type grouping, and pyknotic nuclear clumps associated with fibers with rimmed vacuoles. Immunohistochemistry revealed sarcoplasmic aggregates of phosphorylated TDP‐43 and p62 but not SMN. This study demonstrated myopathic changes with the accumulation of phosphorylated p62 and TDP‐43 in the muscles of a patient with SMA, suggesting that abnormal protein aggregation may be involved in myopathic pathology.

01 Jul 2023·Molecular Therapy

Learning to lock down genetic diseases without throwing away the key

Author: Tai, Phillip W L ; Xie, Jun

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive degeneration of a -motor neurons, resulting in muscle weakness and atrophy.The disease is caused by loss-of-function mutations in the survival motor neuron 1 gene (SMN1), affects approx. 1 in 11,000 newborns, and remains the leading genetic cause of infantile death.To pursue the development of strategies that can overcome cross-neutralization so that patients can be dosed with gene therapies using complementary capsids.Equally important is the potential to develop similar therapies to treat patients with adult-onset SMA (types 3 and 4), or patients with type 2 (intermediate severity) SMA who survive into adulthood but may not receive gene therapy until beyond infancy.These patients may have been exposed to natural AAV infections throughout the course of life.The information gleaned from human patients after AAV vector gene therapy will guide more effective capsid engineering efforts to escape antibody responses.

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Spinal Muscular Atrophy, Late-Onset, Finkel Type

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