Desmin-related myopathy with Mallory body-like inclusions
Synonyms: Early-onset desmin-related myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare inclusion myopathy characterized by hypotonia and axial muscle weakness leading to spinal rigidity and development of scoliosis and other deformities which can result in respiratory failure. The symptoms are apparent from birth or early childhood. The muscle weakness is not progressive, and most patients remain ambulatory. Muscle biopsies show variable myopathic changes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Desmin-related myopathy with Mallory body-like inclusions | Early-onset desmin-related myopathy |
| fr | Myopathie avec surcharge en desmine et inclusions de corps de Mallory | Myopathie avec surcharge en desmine de début précoce |
| de | Desmin-abhängige Myopathie mit Mallory Körperchen-ähnlichen Einschlüssen | Myopathie, Desmin-assoziierte früh-einsetzende |
| es | Miopatía asociada a desmina con inclusiones similares a cuerpos de Mallory | Miopatía asociada a desmina con inclusiones Mallory-like · Miopatía de inicio precoz asociada a desmina |
| it | Miopatia desmina-correlata con inclusioni simil-corpi di Mallory | Miopatia desmina-correlata a esordio precoce |
| nl | Desminegerelateerde myopathie met Mallory-lichaampjes-achtige inclusies | Desminegerelateerde myopathie met vroege aanvang |
| pt | Miopatia desmina-relacionada com inclusões semelhantes a corpos Mallory | Miopatia relacionada com a desmina de início precoce |
| pl | Miopatia zależna od desminy z ciałkami typu Mallory'ego | Miopatia zależna od desminy o wczesnym początku |
| cs | Desmin-vázaná myopatie s inkluzemi podobnými Malloryho tělískům | Desmin-vázaná myopatie s časným nástupem |
| uk | Десмін-залежна міопатія з включеннями Меллорі-подібних тілець | Міопатія, повязана з десміном, що починається на ранніх стадіях |
| zh | Desmin相关性肌病伴Mallory小体样包涵体 | 早发性结蛋白相关性肌病 |
| tr | Mallory benzeri cisim inklüzyonlu desmin-ilişkili miyopati | Erken başlangıçlı desmin-ilişkili miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602771 | NTBT | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| ICD-11 | 4A41.21 | NTBT | index | validated |
| MONDO | 0019398 | E | validated | |
| UMLS | C4275073 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:206662Inclusion myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209041Qualitative or quantitative defects of desmin
rare genetic diseases - ORPHA:209193Qualitative or quantitative defects of selenoprotein N1
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SELENON | Disease-causing germline mutation(s) in | Assessed | HGNC:15999 | ENSG00000162430 | 606210 | 1p36.11 | selenoprotein N | 15122708[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 7224095[PMID]_15122708[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7224095[PMID]_15122708[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/84132
- This record as JSON: /data/d/84132.json