Autosomal dominant congenital benign spinal muscular atrophy

General Information (adopted from Orphanet):

Synonyms, Signs: SPINAL MUSCULAR ATROPHY, CONGENITAL BENIGN, WITH CONTRACTURES
Congenital benign spinal muscular atrophy with contractures
Autosomal dominant benign distal spinal muscular atrophy
Congenital nonprogressive spinal muscular atrophy
Number of Symptoms 33
OrphanetNr: 1216
OMIM Id: 600175
ICD-10: G12.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant distal hereditary motor neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001265) Hyporeflexia 208 / 7739
2
 (HPO:0001284) Areflexia 198 / 7739
3
 (HPO:0001762) Talipes equinovarus 309 / 7739
4
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
5
 (HPO:0006380) Knee flexion contracture 56 / 7739
6
 (HPO:0002808) Kyphosis 289 / 7739
7
 (HPO:0003273) Hip contracture 30 / 7739
8
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
9
 (HPO:0008956) Proximal lower limb amyotrophy 5 / 7739
10
 (HPO:0001763) Pes planus 176 / 7739
11
 (HPO:0002987) Elbow flexion contracture 64 / 7739
12
 (HPO:0002650) Scoliosis 705 / 7739
13
 (HPO:0003307) Hyperlordosis 122 / 7739
14
 (HPO:0001558) Decreased fetal movement 74 / 7739
15
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
16
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
17
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
18
 (HPO:0007269) Spinal muscular atrophy 24 / 7739
19
 (HPO:0008964) Nonprogressive muscular atrophy 1 / 7739
20
 (HPO:0001324) Muscle weakness 859 / 7739
21
 (HPO:0003693) Distal amyotrophy 118 / 7739
22
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
23
 (HPO:0002460) Distal muscle weakness 122 / 7739
24
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
25
 (OMIM) Muscle weakness, distal, restricted to the lower limbs 1 / 7739
26
 (OMIM) Muscle weakness, proximal, pelvic girdle (in severe cases) 1 / 7739
27
 (HPO:0003828) Variable expressivity 130 / 7739
28
 (OMIM) MRI of the thighs shows fatty atrophy with preservation of the biceps femoris in the lateral compartment 1 / 7739
29
 (OMIM) Type II fiber predominance 1 / 7739
30
 (HPO:0003829) Incomplete penetrance 85 / 7739
31
 (OMIM) MRI of the calves shows fatty atrophy with preservation of the medial gastrocnemius in the posteromedial compartment 1 / 7739
32
 (HPO:0003680) Nonprogressive disorder 23 / 7739
33
 (OMIM) Muscle biopsy shows groups of small angulated fibers consistent with denervation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fleury and Hageman (1985) reported a large 4-generation Dutch family in which 21 individuals had a nonprogressive congenital lower motor neuron disorder restricted to the lower part of the body. Fifteen patients had arthrogryposis, indicative of antenatal onset. ...
Molecular genetics OMIM In affected members of the Dutch family reported by Fleury and Hageman (1985) and van der Vleuten et al. (1998), Auer-Grumbach et al. (2010) identified a heterozygous mutation in the TRPV4 gene (R269H; 605427.0009). Auer-Grumbach et al. (2010) ...