SHMARQL

spinal muscular atrophy with progressive myoclonic epilepsy

<http://www.wikidata.org/entity/Q7577468>

rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting
rdfs:label
"spinal muscular atrophy with progressive myoclonic epilepsy"@en
skos:altLabel
"Hereditary myoclonus-progressive distal muscular atrophy syndrome"@en
"Jankovic-Rivera syndrome"@en
"Jankovic–Rivera syndrome"@en
"Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy"@en
"SMAPME"@en
"SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY"@en
"SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY; SMAPME"@en
schema:description "rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting"@en
schema:dateModified "2026-10-23T23:49:25+00:00"^^xsd:dateTime
schema:version 2560159300
wikibase:identifiers 13
wikibase:sitelinks 2
wikibase:statements 47
p:P11143 wd:statement/Q7577468-CC4BA9F4-A9A0-4749-B9DC-DE6876167F83
p:P11430 wd:statement/Q7577468-04802082-4914-992c-5d53-403653117185
p:P1193 wd:statement/Q7577468-256CE69F-C220-4F6B-A2DB-883DF5544939
p:P14914 wd:statement/Q7577468-0A30D181-44ED-4134-917F-D99B5659AD24
p:P1550 wd:statement/Q7577468-6354fd21-4b19-8621-2e76-adce2dbbd330
p:P1692 wd:statement/Q7577468-359E8918-DAF4-4520-A82D-8BE279CA14A2
p:P1995 wd:statement/Q7577468-F459D751-4798-4954-A544-CBA52435FAC7
p:P2293 wd:statement/Q7577468-0C4F189E-9A69-46D4-B941-31B8C7E8F951
p:P279 wd:statement/Q7577468-079917D5-D09C-4E26-AFCE-E6284D13336F
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wd:statement/Q7577468-6428074c-476b-abe2-3a2f-0d235f083633
wd:statement/Q7577468-875af3ab-44d1-c569-671f-a8b0c2c87e30
wd:statement/Q7577468-DEF52859-D087-4407-B441-6A3EAD307E8C
wd:statement/Q7577468-F2C76707-3402-453F-A2E7-16D4637246EC
p:P2841 wd:statement/Q7577468-327F1412-75F3-4B97-8AA8-2F2D0783BED9
p:P2888 wd:statement/Q7577468-6B75A19E-AB08-4C41-97E6-804A0F1E32AD
wd:statement/Q7577468-7362D494-E877-46CF-BBAF-109DAFD35FCB
wd:statement/Q7577468-89DC6104-EC00-40E9-B897-0E2BAA4E5CC8
p:P2892 wd:statement/Q7577468-902E8846-7693-4E86-87B6-7DED51A7BF42
p:P31 wd:statement/Q7577468-042A87F7-EEEE-4BA1-89A3-BE2D3B35BDE0
wd:statement/Q7577468-D08E9D15-FFAC-45D7-B42B-B5BCBF74E37E
p:P4229 wd:statement/Q7577468-EEC1226B-4BFE-4328-81A0-E22101CC07F3
p:P4317 wd:statement/Q7577468-8272DE1D-1FCC-41E1-92B0-FDB2B860140F
p:P486 wd:statement/Q7577468-CD407827-C38A-430F-B9A8-DE000D65E214
p:P492 wd:statement/q7577468-A4C9EF5B-18B1-478C-84F1-4794445993CE
p:P5270 wd:statement/Q7577468-865ACB4E-F441-4165-B5EE-126738F5A156
p:P6366 wd:statement/Q7577468-AE069CA9-8507-4338-AA7F-013B2B7D6ED0
p:P6532 wd:statement/Q7577468-047338F7-05C7-4730-AF35-8CD5001AD142
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wd:statement/Q7577468-27A7CA0D-6529-4E1A-A4BF-11147C39BF34
wd:statement/Q7577468-5AB21EAB-FA1E-4EEF-B4BB-9D5BA846621D
wd:statement/Q7577468-6019D087-6CD0-4098-84F9-9DCA4AFE06A3
wd:statement/Q7577468-6825CEF8-22DE-4177-9F5F-D12DA3B3E620
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wd:statement/Q7577468-8B7A78D9-0CC5-4F93-8B66-1BCB514A3B15
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wd:statement/Q7577468-AF78DAA2-C1B0-4DAE-9A83-DC8CA20D47E2
wd:statement/Q7577468-B363794F-B3D8-462F-9151-4AF95CC556DF
wd:statement/Q7577468-D6C5FDED-0EA8-44CA-BCAB-7CC1328BF01F
wd:statement/Q7577468-D849B256-AAC9-4F0F-A30F-F5FC51800ACD
wd:statement/Q7577468-E32BA2AF-0B7C-41F3-9060-084DDC19736A
wd:statement/Q7577468-F1999B69-079B-48EC-8E34-6A5CE70D6310
wd:statement/Q7577468-F9440148-9BC6-4CAA-9E2A-7FD11D7338B4
p:P699 wd:statement/Q7577468-E57043F0-5CAF-41BD-BB4D-915CC2F6E772
p:P7464 wd:statement/Q7577468-C31C0D35-FAB9-45D1-814C-DEEC34D401EF
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C537563>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0008045>
p:direct-normalized/P6366 <https://makg.org/entity/2776972891>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0111527>
wdt:P11143 "Spinal muscular atrophy with progressive myoclonic epilepsy"
wdt:P11430 "DI-03504"
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D02590"
wdt:P1550 "2590"
wdt:P1692 "345.10"
wdt:P1995 neurology
wdt:P2293 ASAH1
wdt:P279 autosomal recessive disease
myoclonic epilepsy
progressive epilepsy and/or ataxia with myoclonus as a major feature
genetic motor neuron disease
spinal muscular atrophy
wdt:P2841 childhood onset
wdt:P2888 <http://identifiers.org/doid/DOID:0111527>
<http://purl.obolibrary.org/obo/DOID_0111527>
<http://www.orpha.net/ORDO/Orphanet_2590>
wdt:P2892 "C1834569"
wdt:P31 type of disease
rare disease
wdt:P4229 "G25.3"
wdt:P4317 "3044"
wdt:P486 "C537563"
wdt:P492 "159950"
wdt:P5270 "MONDO_0008045"
wdt:P6366 "2776972891"
wdt:P6532 Abnormal lower motor neuron morphology
myoclonus
waddling gait
Recurrent aspiration pneumonia
Frequent falls
Respiratory insufficiency due to muscle weakness
Bilateral tonic-clonic seizure with generalized onset
Limb myoclonus
mild cognitive impairment
tremor
atonic seizure
functional motor deficit
behavioral abnormality
dysphagia
seizure
progressive myoclonus epilepsy
respiratory failure
sensorineural hearing loss
wdt:P699 "DOID:0111527"
wdt:P7464 "spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy"
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