SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY

General Information (adopted from Orphanet):

Synonyms, Signs: AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE
SPSMA
Number of Symptoms 50
OrphanetNr:
OMIM Id: 181405
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000473) Torticollis 42 / 7739
2
(HPO:0010628) Facial palsy 146 / 7739
3
(HPO:0001284) Areflexia 198 / 7739
4
(HPO:0001265) Hyporeflexia 208 / 7739
5
(HPO:0001270) Motor delay 322 / 7739
6
(HPO:0011349) Abducens palsy 7 / 7739
7
(HPO:0007178) Motor polyneuropathy 31 / 7739
8
(HPO:0002136) Broad-based gait 30 / 7739
9
(HPO:0002936) Distal sensory impairment rare [HPO:skoehler] 96 / 7739
10
(HPO:0003691) Scapular winging 51 / 7739
11
(HPO:0001385) Hip dysplasia 242 / 7739
12
(HPO:0001840) Metatarsus adductus 49 / 7739
13
(HPO:0002650) Scoliosis 705 / 7739
14
(HPO:0009049) Peroneal muscle atrophy 8 / 7739
15
(HPO:0001762) Talipes equinovarus 309 / 7739
16
(HPO:0003307) Hyperlordosis 122 / 7739
17
(HPO:0009060) Scapular muscle atrophy 2 / 7739
18
(HPO:0002808) Kyphosis 289 / 7739
19
(HPO:0200055) Small hand 71 / 7739
20
(HPO:0009113) Diaphragmatic weakness 12 / 7739
21
(HPO:0003391) Gowers sign 37 / 7739
22
(HPO:0011727) Peroneal muscle weakness 6 / 7739
23
(HPO:0003634) Amyoplasia 3 / 7739
24
(HPO:0009063) Progressive distal muscle weakness 4 / 7739
25
(HPO:0003697) Scapuloperoneal amyotrophy 5 / 7739
26
(HPO:0008955) Progressive distal muscular atrophy 2 / 7739
27
(HPO:0003555) Muscle fiber splitting 11 / 7739
28
(OMIM) Distal muscle weakness, upper and lower limbs 4 / 7739
29
(OMIM) Weak neck flexion 1 / 7739
30
(HPO:0003829) Incomplete penetrance 85 / 7739
31
(OMIM) Respiratory insufficiency in infancy 1 / 7739
32
(OMIM) Marked variability of fiber size 1 / 7739
33
(OMIM) Respiratory stridor in infancy 2 / 7739
34
(OMIM) Asymmetric limb length (less common) 1 / 7739
35
(OMIM) Increased endomysial fibrosis 1 / 7739
36
(OMIM) Laryngeal palsy 1 / 7739
37
(OMIM) Amyotrophy, neurogenic 1 / 7739
38
(OMIM) Laterally placed scapulae 1 / 7739
39
(OMIM) Atrophy of type 1 and type 2 fibers 1 / 7739
40
(MedDRA:10058668) Clinodactyly 91 / 7739
41
(OMIM) Muscle biopsy shows grouped atrophy 1 / 7739
42
(OMIM) Hoarse voice due to laryngeal palsy 1 / 7739
43
(OMIM) Rounded shoulders due to muscle atrophy 1 / 7739
44
(OMIM) Scapular muscle weakness 2 / 7739
45
(OMIM) Distal lower and upper limb muscle atrophy 3 / 7739
46
(OMIM) Many fibers with internal nuclei 1 / 7739
47
(OMIM) Absence of some scapular muscles (less common) 1 / 7739
48
(HPO:0030084) Clinodactyly 90 / 7739
49
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
50
(OMIM) Fatty replacement 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM DeLong and Siddique (1992) reported an extensive New England kindred of French-Canadian extraction, in which 20 persons in 5 generations had a neurogenic scapuloperoneal amyotrophy that most nearly resembled the Stark-Kaeser form of chronic scapuloperoneal amyotrophy (181400) but ...
Molecular genetics OMIM In the family reported by DeLong and Siddique (1992), Deng et al. (2010) identified a heterozygous mutation in the TRPV4 gene (R316C; 605427.0010). Deng et al. (2010) noted that some of the affected individuals had skeletal abnormalities, including ...