Autosomal dominant spastic paraplegia type 37

A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.



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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:0002314 Degeneration of the lateral corticospinal tracts Very frequent (99-80%)
HP:0007020 Progressive spastic paraplegia Very frequent (99-80%)
HP:0001347 Hyperreflexia Frequent (79-30%)
HP:0002061 Lower limb spasticity Frequent (79-30%)
HP:0002166 Impaired vibration sensation in the lower limbs Frequent (79-30%)
HP:0003487 Babinski sign Frequent (79-30%)
HP:0007340 Lower limb muscle weakness Frequent (79-30%)
HP:0100561 Spinal cord lesion Frequent (79-30%)
HP:0000012 Urinary urgency Occasional (29-5%)
HP:0002064 Spastic gait Occasional (29-5%)
HP:0002169 Clonus Occasional (29-5%)
HP:0002355 Difficulty walking Occasional (29-5%)
HP:0003394 Muscle spasm Occasional (29-5%)
HP:0007350 Hyperreflexia in upper limbs Occasional (29-5%)
HP:0008075 Progressive pes cavus Occasional (29-5%)
HP:0012378 Fatigue Occasional (29-5%)
HP:0001250 Seizures Excluded (0%)
HP:0002921 Abnormality of the cerebrospinal fluid Excluded (0%)
HP:0003457 EMG abnormality Excluded (0%)
HP:0012898 Abnormal lower-limb motor evoked potentials 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
SPG37 spastic paraplegia 37 (autosomal dominant) 100049159