Spastic Paraplegia 20, Autosomal Recessive (SPG20)

Alias:
Troyer Syndrome
Spg20
Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Spastic Paraplegia Type 20
Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome
Spastic Paraparesis, Childhood-Onset, with Distal Muscle Wasting
Spastic Paraplegia, Autosomal Recessive, Troyer Type
Childhood-Onset Spastic Paraparesis with Distal Muscle Wasting
Spastic Paraparesis Childhood-Onset with Distal Muscle Wasting
Autosomal Recessive Spastic Paraplegia Troyer Type
Spastic Paraplegia Autosomal Recessive Troyer Type
Spastic Paraplegia Hereditary Autosomal Recessive
Autosomal Recessive Spastic Paraplegia 20
Hereditary Spastic Paraplegia 20
Spastic Paraplegia, Hereditary
Hereditary Spastic Paraplegia
Spastic Paraplegia Type 20
Cross-Mckusick Syndrome
Spastic Paraplegia 20
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 20, Autosomal Recessive, also known as troyer syndrome, is related to spastic paraplegia 7, autosomal recessive and spastic paraplegia 63, autosomal recessive, and has symptoms including leg cramps, pain in lower limb and cerebellar signs. An important gene associated with Spastic Paraplegia 20, Autosomal Recessive is SPART (Spartin). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and brain, and related phenotypes are spasticity and hyperreflexia
Related ID:
MESH:D015419
ICD11:1789135912

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
19
96
15

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

Category
Name
MGI
Related Gene
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Publications
No data available

References Literature

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