Table 2 other forms of SMA not linked to SMN gene
From: Spinal muscular atrophy
SMA variant | Inheritance/gene | Clinical features |
|---|---|---|
Scapuloperoneal SMA | AD 12q24.1-q24.31 | Progressive weakness of scapuloperoneal and laryngeal muscles |
SMA with pontocerebellar hypoplasia | AR VRK1 | Brainstem and cerebellar hypoplasia, early onset (0-6 mo) |
X-linked infantile SMA with arthogryposis | X-linked Xp11.3-q11.2 UBA1 | Contractures, onset at birth or infancy, early death |
SMA with respiratory distress type I | AR-IGHMBP2 | Early onset (< 3 mo), eventration of diaphragms, distal weakness, pes equines. |
Congenital distal SMA | AD12q23-q24 | Early onset with contractures, nonprogressive |
Distal SMA-V/CMT2d | AD 7p15 GARS | Distal SMA with upper limb predominance |