Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

General Information (adopted from Orphanet):

Synonyms, Signs: SMALED2
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
Number of Symptoms 32
OrphanetNr: 363454
OMIM Id: 615290
ICD-10: G12.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant childhood-onset proximal spinal muscular atrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001265) Hyporeflexia 208 / 7739
2
(HPO:0002515) Waddling gait 56 / 7739
3
(HPO:0001347) Hyperreflexia rare [HPO:skoehler] 363 / 7739
4
(HPO:0001284) Areflexia 198 / 7739
5
(HPO:0002380) Fasciculations rare [HPO:skoehler] 42 / 7739
6
(HPO:0002267) Exaggerated startle response 42 / 7739
7
(HPO:0001270) Motor delay 322 / 7739
8
(HPO:0001257) Spasticity rare [HPO:skoehler] 251 / 7739
9
(HPO:0007034) Generalized hyperreflexia 33 / 7739
10
(HPO:0003307) Hyperlordosis rare [HPO:skoehler] 122 / 7739
11
(HPO:0001385) Hip dysplasia rare [HPO:skoehler] 242 / 7739
12
(HPO:0001762) Talipes equinovarus 309 / 7739
13
(HPO:0001760) Abnormality of the foot 96 / 7739
14
(HPO:0001771) Achilles tendon contracture 27 / 7739
15
(HPO:0003691) Scapular winging rare [HPO:skoehler] 51 / 7739
16
(HPO:0006380) Knee flexion contracture rare [HPO:skoehler] 56 / 7739
17
(HPO:0003273) Hip contracture rare [HPO:skoehler] 30 / 7739
18
(HPO:0009046) Difficulty running 17 / 7739
19
(HPO:0003391) Gowers sign 37 / 7739
20
(HPO:0003327) Axial muscle weakness 10 / 7739
21
(HPO:0007269) Spinal muscular atrophy 24 / 7739
22
(OMIM) Neurogenic abnormalities seen on EMG 1 / 7739
23
(HPO:0003828) Variable expressivity 130 / 7739
24
(OMIM) Distal hyporeflexia 2 / 7739
25
(OMIM) Loss of motor neurons in the anterior horn of the spinal cord 1 / 7739
26
(HPO:0040083) Toe walking 15 / 7739
27
(OMIM) Areflexia, distal 2 / 7739
28
(OMIM) Upper motor signs 2 / 7739
29
(OMIM) Groups of atrophic fibers seen on muscle biopsy (type I fiber predominance) 1 / 7739
30
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
31
(OMIM) Muscle atrophy, proximal and distal 3 / 7739
32
(OMIM) Muscle weakness, proximal and distal 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) SMALED2 is an autosomal dominant form of spinal muscular atrophy characterized by early-childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. ...
Clinical Description OMIM Frijns et al. (1994) described a 3-generation Dutch family in which 7 individuals had nonprogressive muscular atrophy affecting the proximal and distal muscles mainly of the lower extremities. Affected individuals had contractures of the ankles and feet and ...
Molecular genetics OMIM In affected members of 3 unrelated families with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 (SMALED2; 615290), Neveling et al. (2013) identified 3 different heterozygous missense mutations in the BICD2 gene (609797.0001-609797.0003). Two of the families had previously ...