X-linked myopathy with postural muscle atrophy

General Information (adopted from Orphanet):

Synonyms, Signs: EDMD6, INCLUDED
XMPMA EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, INCLUDED
Number of Symptoms 22
OrphanetNr: 178461
OMIM Id: 300696
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Progressive muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000470) Short neck 345 / 7739
2
(HPO:0000466) Limited neck range of motion 5 / 7739
3
(HPO:0003691) Scapular winging 51 / 7739
4
(HPO:0001371) Flexion contracture 220 / 7739
5
(HPO:0003418) Back pain 17 / 7739
6
(HPO:0003306) Spinal rigidity 30 / 7739
7
(HPO:0001678) Atrioventricular block 59 / 7739
8
(HPO:0011675) Arrhythmia 226 / 7739
9
(HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
10
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
11
(HPO:0002093) Respiratory insufficiency 410 / 7739
12
(HPO:0009073) Progressive proximal muscle weakness 8 / 7739
13
(HPO:0003704) Scapuloperoneal weakness 6 / 7739
14
(HPO:0003701) Proximal muscle weakness 105 / 7739
15
(HPO:0003805) Rimmed vacuoles 22 / 7739
16
(HPO:0001419) X-linked recessive inheritance 189 / 7739
17
(OMIM) Muscle atrophy later in the disease 1 / 7739
18
(HPO:0003676) Progressive disorder 148 / 7739
19
(OMIM) Pseudoathletic appearance with prominent muscles before disease onset 1 / 7739
20
(OMIM) Bent spine 1 / 7739
21
(OMIM) Vocal cord palsy 1 / 7739
22
(OMIM) Muscle biopsy shows myopathic or dystrophic changes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) X-linked myopathy with postural muscle atrophy (XMPMA) is a progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterized by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles ...
Clinical Description OMIM Schwartzmeier et al. (1971) described an affected male member of an Austrian family who showed a progressive muscular dystrophy of pelvicofemoral and scapulohumeral type that was distinct from known muscular dystrophies. Muscle pathology had some similarity to myotonic ...
Molecular genetics OMIM In an Austrian family with postural muscle atrophy and generalized hypertrophy, Windpassinger et al. (2008) detected a missense mutation in the FHL1 gene (300163.0002) that putatively disrupted the fourth LIM domain of the protein. A British family with ...