Adenylosuccinate synthetase-like 1-related distal myopathy
Synonyms: ADSSL1-related distal myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adenylosuccinate synthetase-like 1-related distal myopathy | ADSSL1-related distal myopathy |
| fr | Myopathie distale associée à l'adénylosuccinate synthétase-like 1 | Myopathie distale associée à l'ADSSL1 |
| de | Adenylosuccinat-Synthase ähnliche 1-abhängige distale Myopathie | Myopathie, distale, ADSSL1-assoziierte |
| es | Miopatía distal asociada a adenilosuccinato sintetasa de tipo 1 | Miopatía distal asociada a ADSSL1 |
| it | Miopatia distale simile alla adenilsuccinato sintetasi 1 | |
| nl | Adenylosuccinaatsynthetase-achtig 1-gerelateerde distale myopathie | ADSSL1-gerelateerde distale myopathie |
| pt | Miopatia distal associada à adenilosuccinato sintetase similar 1 | |
| pl | Miopatia dystalna zależna od syntetazy adenylobursztynianowej-1 | Miopatia dystalna zależna od ADSSL1 |
| cs | Adenylosukcinát syntetáza-like 1 vázaná distální myopatie | ADSSL1-related distal myopathy · ADSSL1-vázaná distální myopatie |
| uk | Дистальна міопатія, повязана з аденілосукцинатсинтетаза-подібною 1 | Дистальна міопатія, повязана з ADSSL1 |
| zh | 腺苷琥珀酸合成酶样1相关远端肌病 | = en |
| tr | Adenilosüksinat sentetaz benzeri 1-ilişkili distal miyopati | ADSSL1-ilişkili distal miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617030 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0014877 | E | validated | |
| UMLS | C5567521 | 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 (1):
- ORPHA:206653Autosomal recessive distal myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADSS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:20093 | ENSG00000185100 | 612498 | 14q32.33 | adenylosuccinate synthase 1 | 26506222[PMID]_27868399[PMID]_28268051[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 26506222[PMID]_27868399[PMID]_28268051[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26506222[PMID]_27868399[PMID]_28268051[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
37 annotations · validated 2024-08-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002317 | Unsteady gait | |
| Frequent (79-30%) | ||
| HP:0034677 | Ankle contracture | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0009046 | Difficulty running | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0034391 | Elbow contracture | |
| HP:0030193 | Fatigable weakness of chewing muscles | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0031237 | Internally nucleated skeletal muscle fibers | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0009050 | Quadriceps muscle atrophy | |
| HP:0003731 | Quadriceps muscle weakness | |
| HP:0032341 | Reduced forced vital capacity | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0030051 | Tip-toe gait | |
| HP:0031108 | Triceps weakness | |
| HP:0009129 | Upper limb amyotrophy | |
| HP:0030319 | Weakness of facial musculature | |
| Occasional (29-5%) | ||
| HP:0009072 | Decreased Achilles reflex | |
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0002359 | Frequent falls | |
| HP:0000218 | High palate | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0002540 | Inability to walk | |
| HP:0003798 | Nemaline bodies | |
| HP:0003376 | Steppage gait | |
| Very rare (<4-1%) | ||
| HP:0005216 | Impaired mastication | |
| HP:0002200 | Pseudobulbar signs | |
| Excluded (0%) | ||
| HP:0003474 | Somatic sensory dysfunction | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 32646962[PMID]_32331917[PMID]_27868399[PMID]_28268051[PMID]_26506222[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/482601
- This record as JSON: /data/d/482601.json