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September 10, 2025Medicinski podmladakOpen Access

Hereditary neuropathies caused by mutations in the gene encoding peripheral myelin protein 22

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Authors

BBBogdan BjelicaSRStojanović Rakočević

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Overview

This review reveals distinct manifestations of CMT1A and HNPP in patients, highlighting genetic causes and symptoms.

Key Points

  • CMT1A and HNPP are the most common inherited neuropathies due to PMP22 mutations, affecting muscle function early in life.
  • Nerve conduction studies indicate reduced speed in CMT1A, while HNPP shows signs of demyelination with conduction blocks.
  • Management includes symptomatic therapy, focusing on physical therapy and preventive measures for nerve compression.
  • CMT1A typically presents with muscle atrophy and foot deformities, impacting quality of life from adolescence onwards.

Cite This Study

Bjelica et al. (2025) studied this question.

synapsesocial.com/papers/68c1ae7754b1d3bfb60e6addhttps://doi.org/10.5937/mp76-47229
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Molecular Myelin Dysfunction in the Most Common Inherited Peripheral Neuropathies – CMT1A and HNPP2024
  2. 2Peripheral Myelin Protein-22 and Its Prominence in Charcot-Marie-Tooth Disease2026 · 1 citations
  3. 3P.062 Normal NCS in 42-year-old man with PMP22 duplication2024
  4. 4The current status of Charcot-Marie-Tooth disease type 1 A treatment2025 · 2 citations
  5. 5Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot–Marie–Tooth disease2026