A Case Study and Literature Review on Type IV Spinal Muscular Atrophy with Gastrocnemius Pseudohypertrophy Due to SMN1 Gene Deletion - Takeaways - MDSpire

A Case Study and Literature Review on Type IV Spinal Muscular Atrophy with Gastrocnemius Pseudohypertrophy Due to SMN1 Gene Deletion

  • By

  • Hu Xi

  • Wangsheng He

  • Hailin Jiang

  • Wenting Xie

  • Yue Yang

  • Yulong Yang

  • Ke Diao

  • Wenming Yang

  • Hao Li

  • January 22, 2026

  • 0 min

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  • 1

    Spinal muscular atrophy (SMA) is a rare genetic disease caused by SMN1 gene mutations, primarily affecting infants and young children.

  • 2

    Type IV SMA, which occurs in adults, is rare and can present with gastrocnemius muscle pseudohypertrophy, complicating diagnosis.

  • 3

    The case study describes a 51-year-old male with progressive muscle weakness and a confirmed homozygous deletion of the SMN1 gene.

  • 4

    Initial misdiagnoses included cervical spondylotic myelopathy and muscular dystrophy, highlighting the challenges in identifying Type IV SMA.

  • 5

    Despite recommendations for disease-modifying therapy, the patient refused treatment and underwent spinal decompression surgery with poor prognosis.

Original Source(s)

A Case Study and Literature Review on Type IV Spinal Muscular Atrophy with Gastrocnemius Pseudohypertrophy Due to SMN1 Gene Deletion

  • by Hu Xi, Wangsheng He, Hailin Jiang, Wenting Xie, Yue Yang, Yulong Yang, Ke Diao, Wenming Yang, Hao Li

  • January 22, 2026

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