SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: SCAPULOPERONEAL MYOPATHY, FHL1-RELATED
SPM
Number of Symptoms 20
OrphanetNr:
OMIM Id: 300695
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001265) Hyporeflexia 208 / 7739
2
(HPO:0003376) Steppage gait 41 / 7739
3
(HPO:0002515) Waddling gait 56 / 7739
4
(HPO:0009054) Scapuloperoneal myopathy 2 / 7739
5
(HPO:0009027) Foot dorsiflexor weakness 45 / 7739
6
(HPO:0003691) Scapular winging 51 / 7739
7
(HPO:0001371) Flexion contracture 220 / 7739
8
(HPO:0011675) Arrhythmia 226 / 7739
9
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
10
(HPO:0003715) Myofibrillar myopathy 9 / 7739
11
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
12
(HPO:0007340) Lower limb muscle weakness 61 / 7739
13
(HPO:0009073) Progressive proximal muscle weakness 8 / 7739
14
(OMIM) Hyaline inclusions 1 / 7739
15
(OMIM) Arrhythmias may occur 1 / 7739
16
(HPO:0003581) Adult onset 117 / 7739
17
(OMIM) Muscle wasting, progressive 1 / 7739
18
(OMIM) Muscle biopsy showed myopathic changes 5 / 7739
19
(HPO:0001423) X-linked dominant inheritance 69 / 7739
20
(OMIM) Upper limb weakness 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wilhelmsen et al. (1996) examined 44 members of an Italian-American family segregating scapuloperoneal muscular dystrophy which affected 14 individuals. The diagnosis of scapuloperoneal syndrome was based on clinical features including foot drop as an 'invariable early sign,' proximal ...
Molecular genetics OMIM In all affected members of the large family with scapuloperoneal myopathy originally reported by Wilhelmsen et al. (1996), Quinzii et al. (2008) detected a missense change (W122S; 300163.0001) in the FHL1 gene, encoding 4-and-a-half-LIM domains protein-1. The mutation ...