lamin A/C congenital muscular dystrophy
MeSH: C567708ORPHA: 157973
Overview
congenital muscular dystrophy characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the LMNA gene on chromosome 1q22
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with lamin A/C congenital muscular dystrophy, sourced from HPO and Orphanet clinical annotations.
Narrow chestHypotoniaGlobal developmental delayGait disturbanceFlexion contractureLimitation of joint mobilityDecreased fetal movementCongestive heart failureTalipesRespiratory insufficiencyPoor head controlMyopathySkeletal muscle atrophySpinal rigidityHyperlordosisAxial muscle weaknessEMG abnormalityCachexiaArrhythmiaFeeding difficultiesJoint hypermobility
Classification & Codes
MeSH Code
C567708Orphanet Code
ORPHA:157973lamin A/C congenital muscular dystrophy
| MeSH | C567708 |
| Orphanet | ORPHA:157973 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO