MCID: SCP009
MIFTS: 32
|
Scapuloperoneal Myopathy, X-Linked Dominant
Categories:
Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases
|
|
MalaCards integrated aliases for Scapuloperoneal Myopathy, X-Linked Dominant:
Characteristics:Orphanet epidemiological data:55
x-linked scapuloperoneal muscular dystrophy
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult; OMIM:53
Miscellaneous:
onset in early adulthood most patients become wheelchair-bound one large family has been reported (as of 2008)
Inheritance:
x-linked dominant HPO:31
scapuloperoneal myopathy, x-linked dominant:
Onset and clinical course adult onset Inheritance x-linked dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Muscle diseases Neuronal diseases
ICD10:
33
|
NIH Rare Diseases
:
49
X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the FHL1 gene. These cases are inherited in an X-linked dominant manner. Treatment is symptomatic and supportive.
Last updated: 8/9/2012
MalaCards based summary : Scapuloperoneal Myopathy, X-Linked Dominant, also known as spm, is related to secondary progressive multiple sclerosis and niemann-pick disease, and has symptoms including waddling gait, lower limb muscle weakness and flexion contracture. An important gene associated with Scapuloperoneal Myopathy, X-Linked Dominant is FHL1 (Four And A Half LIM Domains 1). Affiliated tissues include skeletal muscle. UniProtKB/Swiss-Prot : 71 Scapuloperoneal myopathy, X-linked dominant: A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound.
Description from OMIM:
300695
|
Diseases related to Scapuloperoneal Myopathy, X-Linked Dominant via text searches within MalaCards or GeneCards Suite gene sharing:(show all 15)
Graphical network of the top 20 diseases related to Scapuloperoneal Myopathy, X-Linked Dominant:![]() |
Symptoms via clinical synopsis from OMIM:53Clinical features from OMIM:300695Human phenotypes related to Scapuloperoneal Myopathy, X-Linked Dominant:31 (show all 13)
UMLS symptoms related to Scapuloperoneal Myopathy, X-Linked Dominant:waddling gait |
|
MalaCards organs/tissues related to Scapuloperoneal Myopathy, X-Linked Dominant:38
Skeletal Muscle
|
Articles related to Scapuloperoneal Myopathy, X-Linked Dominant:(show all 47)
|
UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Myopathy, X-Linked Dominant:71
ClinVar genetic disease variations for Scapuloperoneal Myopathy, X-Linked Dominant:6
|
Search
GEO
for disease gene expression data for Scapuloperoneal Myopathy, X-Linked Dominant.
|
|
|