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SELENON-related myopathy

MONDO:0100100

Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.

Also known as: SELENON-related myopathy, SEPN1-related myopathy

38 clinical trials for this condition and its sub-types.

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Sub-types

Rigid spine muscular dystrophy 1 (1) Desmin-related myopathy with Mallory body-like inclusions (0)

Broader categories

Disease (618) Musculoskeletal system disorder (196) Hereditary disease (172) Muscle tissue disorder (53) Human disease (14) Myopathy (11) Congenital myopathy (8) Skeletal muscle disorder (8) Disease of genetic or genomic mechanism (2) Hereditary skeletal muscle disorder (1)

Trials to join now! 19 Not yet recruiting 7 Not yet finished but already full! 4 Completed 7 Terminated 1

Scientists gather leftover surgical tissue to unlock secrets of bone disease

Knowledge-focused Terminated

This study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …

Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:52 UTC