{"orpha":482601,"name":"Adenylosuccinate synthetase-like 1-related distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADSSL1-related distal myopathy"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-482601/","orphanet_url":"https://www.orpha.net/en/disease/detail/482601","names":{"fr":{"name":"Myopathie distale associée à l'adénylosuccinate synthétase-like 1","synonyms":["Myopathie distale associée à l'ADSSL1"],"definition":"Myopathie distale autosomique récessive rare caractérisée par une faiblesse musculaire diffuse lentement progressive dans l'enfance, suivie d'une faiblesse musculaire à prédominance distale à l'adolescence, et d'une faiblesse musculaire des quadriceps dans la quatrième décennie de vie. Une faiblesse musculaire faciale est fréquemment rapportée. La biopsie musculaire montre une variation de la taille des fibres, une augmentation du nombre de noyaux internes, une fragmentation des fibres musculaires, des vacuoles bordées et une fibrose endomysiale focale."},"de":{"name":"Adenylosuccinat-Synthase ähnliche 1-abhängige distale Myopathie","synonyms":["Myopathie, distale, ADSSL1-assoziierte"],"definition":"Eine autosomal-rezessive distale Myopathie, die durch eine langsam fortschreitende diffuse Muskelschwäche in der Kindheit gekennzeichnet ist, gefolgt von einer vorwiegend distalen Muskelschwäche in der Adoleszenz und einer Quadrizepsmuskelschwäche im vierten Jahrzehnt. Eine Schwäche der Fazialmuskeln wird häufig berichtet. Die Muskelbiopsie zeigt Variationen in der Fasergröße, vergrößerte interne Kerne, Fasersplitting, umrandete Vakuolen und fokale endomysiale Fibrose."},"es":{"name":"Miopatía distal asociada a adenilosuccinato sintetasa de tipo 1","synonyms":["Miopatía distal asociada a ADSSL1"],"definition":"Es una miopatía distal autosómica recesiva poco frecuente caracterizada por debilidad muscular difusa lentamente progresiva en la infancia, seguida de debilidad muscular predominantemente distal en la adolescencia y debilidad muscular de los cuádriceps en la cuarta década. En la mayoria de los casos se ha descrito debilidad de los músculos faciales. La biopsia muscular muestra variabilidad del tamaño de las fibras, aumento de los núcleos internos, división de fibras, vacuolas ribeteadas y fibrosis endomisial focal."},"it":{"name":"Miopatia distale simile alla adenilsuccinato sintetasi 1","definition":"Si tratta di una miopatia distale rara, a trasmissione autosomica recessiva, ad esordio nell'infanzia con debolezza muscolare diffusa a progressione lenta, seguita dalla debolezza muscolare prevalentemente distale nell'adolescenza, e dalla debolezza dei muscoli quadricipiti nella quarta decade di vita. È comune la debolezza dei muscoli facciali. La biopsia muscolare rivela alterazioni nelle dimensioni delle fibre, aumento dei nuclei interni, separazione delle fibre, vacuoli cerchiati e fibrosi endomisiale focale."},"nl":{"name":"Adenylosuccinaatsynthetase-achtig 1-gerelateerde distale myopathie","synonyms":["ADSSL1-gerelateerde distale myopathie"],"definition":"Een zeldzame autosomaal recessieve distale myopathie, gekarakteriseerd door traag progressieve diffuse spierzwakte in de kindertijd, gevolgd door hoofdzakelijk distale spierzwakte in de adolescentie, en zwakte van musculus quadriceps femoris in het vierde levensdecennium. Zwakte van aangezichtsspieren wordt vaak gerapporteerd. Spierbiopsie toont variabele omvang van vezels, toename van aantal interne nuclei, splijting van vezels, omrande vacuolen, en focale endomysiale fibrose."},"pt":{"name":"Miopatia distal associada à adenilosuccinato sintetase similar 1"},"pl":{"name":"Miopatia dystalna zależna od syntetazy adenylobursztynianowej-1","synonyms":["Miopatia dystalna zależna od ADSSL1"]},"cs":{"name":"Adenylosukcinát syntetáza-like 1 vázaná distální myopatie","synonyms":["ADSSL1-related distal myopathy","ADSSL1-vázaná distální myopatie"]},"uk":{"name":"Дистальна міопатія, повязана з аденілосукцинатсинтетаза-подібною 1","synonyms":["Дистальна міопатія, повязана з ADSSL1"],"definition":"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."},"zh":{"name":"腺苷琥珀酸合成酶样1相关远端肌病","synonyms":["ADSSL1-related distal myopathy"],"definition":"是一种罕见的常染色体隐性远端肌病，其特点是儿童期缓慢进行性弥漫性肌无力，青春期继而出现以远端肌无力为主，四十岁出现股四头肌无力。面肌无力也常见。肌肉活检显示肌纤维大小不一，内核增多，纤维分裂，边缘空泡，局灶性肌内纤维化。"},"tr":{"name":"Adenilosüksinat sentetaz benzeri 1-ilişkili distal miyopati","synonyms":["ADSSL1-ilişkili distal miyopati"]}},"xrefs":[{"source":"OMIM","code":"617030","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014877","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567521","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206653,"name":"Autosomal recessive distal myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ADSS1","name":"adenylosuccinate synthase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26506222[PMID]_27868399[PMID]_28268051[PMID]","hgnc":"20093","ensembl":"ENSG00000185100","omim":"612498","loci":["14q32.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"26506222[PMID]_27868399[PMID]_28268051[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26506222[PMID]_27868399[PMID]_28268051[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-08-07","source":"32646962[PMID]_32331917[PMID]_27868399[PMID]_28268051[PMID]_26506222[PMID]","terms":[{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034677","label":"Ankle contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034391","label":"Elbow contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030193","label":"Fatigable weakness of chewing muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031237","label":"Internally nucleated skeletal muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009050","label":"Quadriceps muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003731","label":"Quadriceps muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032341","label":"Reduced forced vital capacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031108","label":"Triceps weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009129","label":"Upper limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009072","label":"Decreased Achilles reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003798","label":"Nemaline bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002200","label":"Pseudobulbar signs","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Excluded (0%)","criteria":null}]}}