Group |
Name Alternative names |
OMIM |
Gene |
Locus |
Mode of inheritance |
Characteristics |
SMA |
Spinal muscular atrophy (SMA)
- 5q spinal muscular atrophy
- Autosomal recessive proximal spinal muscular atrophy
- Werdnig–Hoffmann disease / Kugelberg–Welander disease
|
253300 253550 253400 271150 |
SMN1 |
5q13.2 |
Autosomal recessive |
Affects primarily proximal muscles in people of all ages, progressive, relatively common |
XLSMA |
X-linked spinal muscular atrophy type 1 (SMAX1)
- Spinal and bulbar muscular atrophy (SBMA)
- Kennedy's disease (KD)
|
313200 |
NR3C4 |
Xq12 |
X-linked recessive |
Affects primarily bulbar muscles as well as sensory nerves mainly in adult men, progressive |
X-linked spinal muscular atrophy type 2 (SMAX2)
- Arthrogryposis multiplex congenita – X-linked type 1 (AMCX1)
|
301830 |
UBA1 |
Xp11.23 |
X-linked recessive |
Characterised by bone fractures, affects mainly distal muscles in newborn boys, usually fatal in infancy |
X-linked spinal muscular atrophy type 3 (SMAX3)
- Distal spinal muscular atrophy – X-linked (DSMAX)
|
300489 |
ATP7A |
Xq21.1 |
X-linked recessive |
Affects distal muscles of all extremities mainly in boys, slowly progressive |
DSMA |
Distal spinal muscular atrophy type 1 (DSMA1)
- Spinal muscular atrophy with respiratory distress type 1 (SMARD1)
- Distal hereditary motor neuronopathy type 6 (DHMN6)
|
604320 |
IGHMBP2 |
11q13.3 |
Autosomal recessive |
Affects mainly infant boys, similar to SMA type 1 but with diaphragmatic paralysis |
Distal spinal muscular atrophy type 2 (DSMA2)
- Distal hereditary motor neuronopathy – Jerash type (DHMN-J)
|
605726 |
SIGMAR1 |
19p13.3 |
Autosomal recessive |
Slowly progressive |
Distal spinal muscular atrophy type 3 (DSMA3)
- Distal hereditary motor neuronopathy types 3 & 4 (DHMN3/DHMN4)
|
607088 |
? |
11q13.3 |
Autosomal recessive |
Slowly progressive |
Distal spinal muscular atrophy type 4 (DSMA4) |
611067 |
PLEKHG5 |
1p36.31 |
Autosomal recessive |
Slowly progressive, described only in one family |
Distal spinal muscular atrophy type 5 (DSMA5) |
614881 |
DNAJB2 |
2q35 |
Autosomal recessive |
Young adult onset, slowly progressive |
Distal spinal muscular atrophy type VA (DSMAVA)
- Distal hereditary motor neuronopathy type 5A (DHMN5A)
|
600794 |
GARS |
7p14.3 |
Autosomal dominant |
With upper limb predominance; allelic and overlapping with CMT2D, phenotype overlapping with Silver syndrome |
Distal spinal muscular atrophy type VB (DSMAVB)
- Distal hereditary motor neuronopathy type 5B (DHMN5B)
|
614751 |
REEP1 |
2p11 |
Autosomal dominant |
With upper limb predominance; allelic and overlapping with HSP-31 |
Distal spinal muscular atrophy with calf predominance
- Distal hereditary motor neuronopathy type 2D (DHMN2D)
|
615575 |
FBXO38 |
5q32 |
Autosomal dominant |
Juvenile- or adult-onset, slowly progressive, affects both proximal and distal muscles, initially manifests with calf weakness which progresses to hands |
Distal spinal muscular atrophy with vocal cord paralysis
- Distal hereditary motor neuronopathy type 7A (DHMN7A)
- Harper–Young myopathy
|
158580 |
SLC5A7 |
2q12.3 |
Autosomal dominant |
Adult-onset with vocal cord paralysis, very rare |
Congenital distal spinal muscular atrophy
- Distal hereditary motor neuronopathy type 8 (DHMN8)
|
600175 |
TRPV4 |
12q24.11 |
Autosomal dominant |
Affects primarily distal muscles of lower limbs, non-progressive, rare, allelic with SPSMA and CMT2C |
Scapuloperoneal spinal muscular atrophy (SPSMA)
- Scapuloperoneal neurogenic amyotrophy
|
181405 |
TRPV4 |
12q24.11 |
Autosomal dominant or X-linked dominant |
Affects muscles of lower limbs, non-progressive, rare, allelic with congenital distal spinal muscular atrophy and CMT2C |
Autosomal dominant distal spinal muscular atrophy
- Distal hereditary motor neuronopathy type 2A (DHMN2A)
|
158590 |
HSPB8 |
12q24.23 |
Autosomal dominant |
Adult-onset. Allelic with Charcot–Marie–Tooth disease type 2L (CMT2L) |
Autosomal dominant juvenile distal spinal muscular atrophy
- Distal hereditary motor neuronopathy type 1 (DHMN1)
|
182960 |
? |
7q34–q36 |
Autosomal dominant |
Juvenile-onset |
|
Juvenile segmental spinal muscular atrophy (JSSMA) |
183020 |
? |
18q21.3 |
? |
Juvenile-onset, progressive with stabilisation after 2–4 years, affects primarily hands, very rare |
Finkel type proximal spinal muscular atrophy (SMAFK) |
182980 |
VAPB |
20q13.32 |
Autosomal dominant |
Late-onset, affects proximal muscles in adults |
James type infantile spinal muscular atrophy (SMAJI) |
619042 |
GARS1 |
7p14.3 |
Autosomal dominant |
Infantile-onset hypotonia, slowly progressive, resulting in delayed motor milestones and loss of previous motor skills. Children never walk. Milder disorders caused by GARS1 mutations are CMT2D and HMN5A. |
Jokela type spinal muscular atrophy (SMAJ) |
615048 |
CHCHD10 |
22q11.2–q13.2 |
Autosomal dominant |
Late-onset, slowly progressive, affects both proximal and distal muscles in adults |
Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) |
158600 |
DYNC1H1 |
14q32 |
Autosomal dominant |
Affects proximal muscles in infants |
Spinal muscular atrophy with lower extremity predominance 2A (SMALED2A) |
615290 |
BICD2 |
9q22.31 |
Autosomal dominant |
Early-onset, primarily affecting lower limbs, slowly progressive, non-life-limiting, very rare |
Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) |
618291 |
BICD2 |
9q22.31 |
Autosomal dominant |
Presents with hypotonia, contractures and respiratory involvement at birth, frequently fatal in early childhood, very rare |
Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) |
159950 |
ASAH1 |
8p22 |
Autosomal recessive |
|
Spinal muscular atrophy with congenital bone fractures 1 (SMABF1) |
616866 |
TRIP4 |
15q22.31 |
Autosomal recessive |
Prenatal onset, characterised by severe muscle wasting, respiratory and feeding failure, and bone fractures at birth as in arthrogryposis multiplex congenita, usually fatal in infancy |
Spinal muscular atrophy with congenital bone fractures 2 (SMABF2) |
616867 |
ASCC1 |
10q22.1 |
Autosomal recessive |
Prenatal onset, characterised by severe muscle wasting, respiratory and feeding failure, and bone fractures at birth as in arthrogryposis multiplex congenita, usually fatal in infancy[2][3][4] |
PCH |
Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH)
- Pontocerebellar hypoplasia type 1A (PCH1A)
|
607596 |
VRK1 |
14q32 |
Autosomal dominant |
→ see Pontocerebellar hypoplasia |
MMA |
Juvenile asymmetric segmental spinal muscular atrophy (JASSMA)
- Monomelic amyotrophy
- Hirayama disease
- Sobue disease
|
602440 |
? |
? |
? |
→ see Monomelic amyotrophy |
PMA |
Progressive spinal muscular atrophy
- Progressive muscular atrophy
- Duchenne-Aran muscular atrophy
|
? |
? |
? |
? |
→ see Progressive muscular atrophy |