TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations - Takeaways - MDSpire

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations

  • By

  • Gage P Kosmanopoulos

  • Jack K Donohue

  • Maya Hoke

  • Simone Thomas

  • Margo A Peyton

  • Linh Vo

  • Thomas O Crawford

  • Reza Sadjadi

  • David N Herrmann

  • Sabrina W Yum

  • Mary M Reilly

  • Steven S Scherer

  • Richard S Finkel

  • Richard A Lewis

  • Davide Pareyson

  • Chiara Pisciotta

  • David Walk

  • Michael E Shy

  • Charlotte J Sumner

  • Inherited Neuropathies Consortium - Rare Disease Clinical Research Network

  • Eleonora Cavalca

  • Luca Crivellari

  • John Day

  • Matilde Laura

  • Stefania Magri

  • Isabella Moroni

  • Bipasha Mukherjee-Clavin

  • Emanuela Pagliano

  • Alex Rossor

  • Paola Saveri

  • Giulia Schirinzi

  • Mariola Skorupinska

  • Janet Sowden

  • Franco Taroni

  • Elizabeth Wood

  • Brett A McCray

  • June 25, 2024

  • 0 min

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  • 1

    TRPV4-related neuromuscular disorders include Charcot-Marie-Tooth disease type 2C and two forms of spinal muscular atrophy, characterized by motor dysfunction.

  • 2

    Patients with TRPV4 mutations exhibit a bimodal age of onset, primarily within the first two years of life, with distinct clinical symptoms compared to CMT type 1A.

  • 3

    Common symptoms in TRPV4 patients include severe ambulatory difficulties, proximal muscle weakness, vocal fold weakness, and respiratory dysfunction.

  • 4

    Skeletal abnormalities such as scoliosis, arthrogryposis, and foot deformities are prevalent among patients with TRPV4-related neuromuscular disorders.

  • 5

    Clinical trial designs for TRPV4-related diseases should focus on capturing non-length dependent motor dysfunction and respiratory issues.

Original Source(s)

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations

  • by Gage P Kosmanopoulos, Jack K Donohue, Maya Hoke, Simone Thomas, Margo A Peyton, Linh Vo, Thomas O Crawford, Reza Sadjadi, David N Herrmann, Sabrina W Yum, Mary M Reilly, Steven S Scherer, Richard S Finkel, Richard A Lewis, Davide Pareyson, Chiara Pisciotta, David Walk, Michael E Shy, Charlotte J Sumner, Inherited Neuropathies Consortium - Rare Disease Clinical Research Network, Eleonora Cavalca, Luca Crivellari, John Day, Matilde Laura, Stefania Magri, Isabella Moroni, Bipasha Mukherjee-Clavin, Emanuela Pagliano, Alex Rossor, Paola Saveri, Giulia Schirinzi, Mariola Skorupinska, Janet Sowden, Franco Taroni, Elizabeth Wood, Brett A McCray

  • June 25, 2024

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