Autosomal dominant spastic paraplegia type 3

A rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0002061 Lower limb spasticity Very frequent (99-80%)
HP:0002395 Lower limb hyperreflexia Very frequent (99-80%)
HP:0003487 Babinski sign Very frequent (99-80%)
HP:0009053 Distal lower limb muscle weakness Very frequent (99-80%)
HP:0001288 Gait disturbance Frequent (79-30%)
HP:0002064 Spastic gait Frequent (79-30%)
HP:0008944 Distal lower limb amyotrophy Frequent (79-30%)
HP:0011448 Ankle clonus Frequent (79-30%)
HP:0000012 Urinary urgency Occasional (29-5%)
HP:0001270 Motor delay Occasional (29-5%)
HP:0002495 Impaired vibratory sensation Occasional (29-5%)
HP:0009830 Peripheral neuropathy Occasional (29-5%)
HP:0040083 Toe walking Occasional (29-5%)
HP:0001260 Dysarthria Very rare (4-1%)
HP:0001510 Growth delay Very rare (4-1%)
HP:0002063 Rigidity Very rare (4-1%)
HP:0002067 Bradykinesia Very rare (4-1%)
HP:0002359 Frequent falls Very rare (4-1%)
HP:0006895 Lower limb hypertonia Very rare (4-1%)
HP:0100963 Hyperesthesia Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ATL1 atlastin GTPase 1 51062