Autosomal dominant spastic paraplegia type 38

A complex hereditary spastic paraplegia characterized by mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also reported.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(5.0%)		 21712667
 Co-segregation of Huntington disease and hereditary spastic paraplegia in 4 generations.
Panas M, Karadima G, Kalfakis N, Vassilopoulos D.
Neurologist. 2011;17(4):211-2.
Spastic paraplegia
BSCL2 HTT SPG38
Adult Females Genes, Dominant Genetic Predisposition to Disease Greece Homo sapiens Huntington Disease Magnetic Resonance Imaging Male Middle Aged Phenotype Spastic Paraplegia, Hereditary Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 25

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:0003393 Thenar muscle atrophy Very frequent (99-80%)
HP:0003487 Babinski sign Very frequent (99-80%)
HP:0007020 Progressive spastic paraplegia Very frequent (99-80%)
HP:0008075 Progressive pes cavus Very frequent (99-80%)
HP:0003392 First dorsal interossei muscle weakness Frequent (79-30%)
HP:0003426 First dorsal interossei muscle atrophy Frequent (79-30%)
HP:0003427 Thenar muscle weakness Frequent (79-30%)
HP:0003457 EMG abnormality Frequent (79-30%)
HP:0009031 Amyotrophy of ankle musculature Frequent (79-30%)
HP:0009053 Distal lower limb muscle weakness Frequent (79-30%)
HP:0100561 Spinal cord lesion Frequent (79-30%)
HP:0002166 Impaired vibration sensation in the lower limbs Occasional (29-5%)
HP:0006892 Frontotemporal cerebral atrophy Occasional (29-5%)
HP:0009027 Foot dorsiflexor weakness Occasional (29-5%)
HP:0100543 Cognitive impairment Occasional (29-5%)
HP:0000020 Urinary incontinence Excluded (0%)
HP:0000726 Dementia Excluded (0%)
HP:0001250 Seizures Excluded (0%)
HP:0002921 Abnormality of the cerebrospinal fluid Excluded (0%)
HP:0009049 Peroneal muscle atrophy 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
SPG38 spastic paraplegia 38 (autosomal dominant, Silver syndrome) 100049707