DiseaseID 25787
常染色体隐性遗传痉挛性截瘫20型
Spastic Paraplegia 20, Autosomal Recessive
JABL99:Spastic paraparesis with distal muscle wasting. The syndrome has its onset in childhood with dysarthria and muscle wasting (involving mainly the thenar, hypothenar, and dorsal interosseous muscles), followed by sp
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Disease: 1Symptom: 4Target: 2Links: 6
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25787
- Core Entity Id
- 118355
- Source Entity Count
- 1
- Preferred Name
- Spastic Paraplegia 20, Autosomal Recessive
- Name Cn
- 常染色体隐性遗传痉挛性截瘫20型
- Name Pinyin
- Chang Ran Se Ti Yin Xing Yi Chuan Jing Luan Xing Jie Tan 20 Xing
- Name En
- Spastic Paraplegia 20, Autosomal Recessive
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- JABL99:Spastic paraparesis with distal muscle wasting. The syndrome has its onset in childhood with dysarthria and muscle wasting (involving mainly the thenar, hypothenar, and dorsal interosseous muscles), followed by spasticity and contractures of the lower limbs (thus making it difficult if not impossible to walk), drooling, and mild cerebellar signs. Mental retardation was reported in cases of nonprogressive spastic paresis associated with short stature and behavior disorders. All early cases were observed in Amish families but later reports came from a non-Amish sibship. The syndrome was named for the surname of the patients in an Amish group in Ohio, in whom the condition was first observed.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Spastic Paraplegia 20, Autosomal Recessive
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0393559
Sym Map
SMDE00346
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
JABL99:Spastic paraparesis with distal muscle wasting. The syndrome has its onset in childhood with dysarthria and muscle wasting (involving mainly the thenar, hypothenar, and dorsal interosseous muscles), followed by spasticity and contractures of the lower limbs (thus making it difficult if not impossible to walk), drooling, and mild cerebellar signs. Mental retardation was reported in cases of nonprogressive spastic paresis associated with short stature and behavior disorders. All early cases were observed in Amish families but later reports came from a non-Amish sibship. The syndrome was named for the surname of the patients in an Amish group in Ohio, in whom the condition was first observed.