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SELENON-related myopathy

MedGen UID:
1008641
•Concept ID:
CN327047
•
Disease or Syndrome
Synonym: SEPN1-related myopathy
 
Monarch Initiative: MONDO:0100100

Definition

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. [from MONDO]

Recent clinical studies

Etiology

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.
de Laat ECM, Houwen-van Opstal SLS, Bouman K, van Doorn JLM, Cameron D, van Alfen N, Dittrich ATM, Kamsteeg EJ, Smeets HJM, Groothuis JT, Erasmus CE, Voermans NC, Voermans NC
BMC Neurol 2024 Oct 23;24(1):409. doi: 10.1186/s12883-024-03852-4. PMID: 39443859Free PMC Article
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC
J Neuromuscul Dis 2023;10(6):1055-1074. doi: 10.3233/JND-221673. PMID: 37807786Free PMC Article
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, van Tilburg WCM, Buckens SCFM, Dittrich ATM, Draaisma JMT, Janssen MCH, Kamsteeg EJ, van Kleef ESB, Koene S, Smeitink JAM, Küsters B, van Tienen FHJ, Smeets HJM, van Engelen BGM, Erasmus CE, Voermans NC
BMC Neurol 2021 Aug 12;21(1):313. doi: 10.1186/s12883-021-02336-z. PMID: 34384384Free PMC Article

Diagnosis

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.
de Laat ECM, Houwen-van Opstal SLS, Bouman K, van Doorn JLM, Cameron D, van Alfen N, Dittrich ATM, Kamsteeg EJ, Smeets HJM, Groothuis JT, Erasmus CE, Voermans NC, Voermans NC
BMC Neurol 2024 Oct 23;24(1):409. doi: 10.1186/s12883-024-03852-4. PMID: 39443859Free PMC Article
Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.
Bouman K, van den Heuvel FMA, Evertz R, Boesaard E, Groothuis JT, van Engelen BGM, Nijveldt R, Erasmus CE, Udink Ten Cate FEA, Voermans NC
J Neuromuscul Dis 2024;11(5):919-934. doi: 10.3233/JND-230190. PMID: 39177608Free PMC Article
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, van Tilburg WCM, Buckens SCFM, Dittrich ATM, Draaisma JMT, Janssen MCH, Kamsteeg EJ, van Kleef ESB, Koene S, Smeitink JAM, Küsters B, van Tienen FHJ, Smeets HJM, van Engelen BGM, Erasmus CE, Voermans NC
BMC Neurol 2021 Aug 12;21(1):313. doi: 10.1186/s12883-021-02336-z. PMID: 34384384Free PMC Article

Therapy

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.
de Laat ECM, Houwen-van Opstal SLS, Bouman K, van Doorn JLM, Cameron D, van Alfen N, Dittrich ATM, Kamsteeg EJ, Smeets HJM, Groothuis JT, Erasmus CE, Voermans NC, Voermans NC
BMC Neurol 2024 Oct 23;24(1):409. doi: 10.1186/s12883-024-03852-4. PMID: 39443859Free PMC Article
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC
J Neuromuscul Dis 2023;10(6):1055-1074. doi: 10.3233/JND-221673. PMID: 37807786Free PMC Article
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, van Tilburg WCM, Buckens SCFM, Dittrich ATM, Draaisma JMT, Janssen MCH, Kamsteeg EJ, van Kleef ESB, Koene S, Smeitink JAM, Küsters B, van Tienen FHJ, Smeets HJM, van Engelen BGM, Erasmus CE, Voermans NC
BMC Neurol 2021 Aug 12;21(1):313. doi: 10.1186/s12883-021-02336-z. PMID: 34384384Free PMC Article

Prognosis

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.
de Laat ECM, Houwen-van Opstal SLS, Bouman K, van Doorn JLM, Cameron D, van Alfen N, Dittrich ATM, Kamsteeg EJ, Smeets HJM, Groothuis JT, Erasmus CE, Voermans NC, Voermans NC
BMC Neurol 2024 Oct 23;24(1):409. doi: 10.1186/s12883-024-03852-4. PMID: 39443859Free PMC Article

Clinical prediction guides

Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.
Bouman K, van den Heuvel FMA, Evertz R, Boesaard E, Groothuis JT, van Engelen BGM, Nijveldt R, Erasmus CE, Udink Ten Cate FEA, Voermans NC
J Neuromuscul Dis 2024;11(5):919-934. doi: 10.3233/JND-230190. PMID: 39177608Free PMC Article
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC
J Neuromuscul Dis 2023;10(6):1055-1074. doi: 10.3233/JND-221673. PMID: 37807786Free PMC Article

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