Key result
A heterozygous mutation in the DYNC1H1 gene (c.1741 A > T) was identified in a mother and daughter, confirming the diagnosis of SMALED, a rare non-5q form of spinal muscular atrophy.
Case Report (n=2)
No
SMALED is a rare, slowly progressive non-5q form of spinal muscular atrophy caused by DYNH1C1 mutations that does not significantly impair quality of life.
Supports DYNC1H1 testing in non-5q SMA families; extends mutational spectrum but remains hypothesis-generating.
Spinln muskulrn atrofie (SMA) je degenerativn onemocnn motoneuron pednch roh mnch, kter je piblin v 95 % ppad zpsoben mutac v SMN1 genu na chromozomu 5q13. Pokroky v genetickm testovn, pedevm sekvenovn nov generace, vede k objevm dalch kauzlnch gen podmiujcch vznik non-5q forem SMA. Ty jsou velmi vzcn a geneticky i fenotypov velmi heterogenn. Jeden z tchto subtyp je podmnn mutac genu pro tk etzec cytoplazmatickho dyneinu, genu DYNH1C1. Jedn se o formu SMA s dominantnm postienm dolnch konetin, autosomln dominantn ddinou, v literatue tedy popisovanou pod zkratkou SMALED. Akoli se jedn o SMA, tento fenotyp choroby je jen velmi pomalu progredujc a vznamn nenaruuje kvalitu ivota.
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Hemerková et al. (2023) conducted a case report in Spinal muscular atrophy affecting the lower limbs, dominantly inherited (SMALED) (n=2). DYNC1H1 mutation was evaluated on Clinical and genetic characterization. A heterozygous mutation in the DYNC1H1 gene (c.1741 A > T) was identified in a mother and daughter, confirming the diagnosis of SMALED, a rare non-5q form of spinal muscular atrophy.
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