Distal myopathy with early respiratory muscle involvement
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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24
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OrphanetNr:
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34521
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OMIM Id:
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607569
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ICD-10:
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G71.0
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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24
cases
[Orphanet]
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Inheritance:
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Autosomal dominant
[Orphanet]
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Age of onset:
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Adult
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Autosomal dominant distal myopathy
-Rare genetic disease
-Rare neurologic disease
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1
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(HPO:0003722)
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Neck flexor weakness |
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13 / 7739
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2
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(HPO:0003547)
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Shoulder girdle muscle weakness |
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21 / 7739
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3
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(HPO:0009027)
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Foot dorsiflexor weakness |
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45 / 7739
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4
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(HPO:0003236)
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Elevated serum creatine phosphokinase |
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214 / 7739
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5
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(HPO:0002877)
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Nocturnal hypoventilation |
5/11 [HPO:probinson]
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9 / 7739
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6
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(HPO:0002878)
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Respiratory failure |
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57 / 7739
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7
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(HPO:0002792)
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Reduced vital capacity |
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17 / 7739
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8
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(HPO:0002093)
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Respiratory insufficiency |
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410 / 7739
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9
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(HPO:0003458)
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EMG: myopathic abnormalities |
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38 / 7739
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10
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(HPO:0003749)
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Pelvic girdle muscle weakness |
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15 / 7739
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11
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(HPO:0003805)
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Rimmed vacuoles |
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22 / 7739
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12
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(HPO:0003555)
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Muscle fiber splitting |
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11 / 7739
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13
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(HPO:0003731)
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Quadriceps muscle weakness |
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2 / 7739
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14
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(HPO:0003828)
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Variable expressivity |
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130 / 7739
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15
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(OMIM)
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Increased creatine kinase, mild to moderate |
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1 / 7739
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16
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(OMIM)
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Increased fat and fibrous tissue |
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1 / 7739
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17
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(HPO:0003581)
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Adult onset |
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117 / 7739
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18
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(OMIM)
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Bilateral foot drop |
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2 / 7739
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19
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(HPO:0003676)
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Progressive disorder |
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148 / 7739
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20
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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21
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(OMIM)
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Muscle biopsy shows atrophy |
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1 / 7739
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22
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(OMIM)
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Distal lower limb anterior compartment weakness |
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1 / 7739
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23
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(OMIM)
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[DEL]EMG shows myopathic changes |
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27 / 7739
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24
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(OMIM)
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Congophilic eosinophilic inclusions |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |