Autosomal dominant spastic paraplegia type 73

A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.



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

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0001347 Hyperreflexia Very frequent (99-80%)
HP:0002061 Lower limb spasticity Very frequent (99-80%)
HP:0002064 Spastic gait Very frequent (99-80%)
HP:0002314 Degeneration of the lateral corticospinal tracts Very frequent (99-80%)
HP:0003487 Babinski sign Very frequent (99-80%)
HP:0007020 Progressive spastic paraplegia Very frequent (99-80%)
HP:0000012 Urinary urgency Frequent (79-30%)
HP:0000020 Urinary incontinence Frequent (79-30%)
HP:0002166 Impaired vibration sensation in the lower limbs Frequent (79-30%)
HP:0002355 Difficulty walking Frequent (79-30%)
HP:0003457 EMG abnormality Frequent (79-30%)
HP:0007199 Progressive spastic paraparesis Frequent (79-30%)
HP:0008944 Distal lower limb amyotrophy Frequent (79-30%)
HP:0009053 Distal lower limb muscle weakness Frequent (79-30%)
HP:0012898 Abnormal lower-limb motor evoked potentials Frequent (79-30%)
HP:0008075 Progressive pes cavus Occasional (29-5%)
HP:0000726 Dementia Excluded (0%)
HP:0001250 Seizures Excluded (0%)
HP:0002921 Abnormality of the cerebrospinal fluid Excluded (0%)


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
CPT1C carnitine palmitoyltransferase 1C 126129