Autosomal recessive spastic paraplegia type 20 (Q99404): Difference between revisions
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Paraplegia espástica autossômica recessiva, também conhecida como síndrome de Troyer, que é causada por mutações no gene SPG20 (13q13.1), que codifica a proteína spartina. Caracterizada por início na infância de paraparesia espástica progressiva associada a amiotrofia distal, paralisia pseudobulbar, atrasos motores e cognitivos, disartria, disdiadococinesia, tremor intencional leve, baixa estatura e anormalidades esqueléticas sutis (pés cavos, pé torto grau leve, cifoescoliose). | |||
| description / en | description / en | ||
Autosomal recessive spastic paraplegia also known as Troyer syndrome that is caused by mutations in the SPG20 gene (13q13.1), which encodes the protein spartin. Characterized by infant onset of progressive spastic paraparesis associated with distal amyotrophy, pseudobulbar palsy, motor and cognitive delays, dysarthria, dysdiadochokinesia, mild intention tremor, short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). | |||
Revision as of 16:04, 16 August 2026
Autosomal recessive spastic paraplegia also known as Troyer syndrome that is caused by mutations in the SPG20 gene (13q13.1), which encodes the protein spartin. Characterized by infant onset of progressive spastic paraparesis associated with distal amyotrophy, pseudobulbar palsy, motor and cognitive delays, dysarthria, dysdiadochokinesia, mild intention tremor, short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1242316741 |
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| English | Autosomal recessive spastic paraplegia type 20 |
Autosomal recessive spastic paraplegia also known as Troyer syndrome that is caused by mutations in the SPG20 gene (13q13.1), which encodes the protein spartin. Characterized by infant onset of progressive spastic paraparesis associated with distal amyotrophy, pseudobulbar palsy, motor and cognitive delays, dysarthria, dysdiadochokinesia, mild intention tremor, short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). |
