U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hereditary spastic paraplegia 13(SPG13)

MedGen UID:
344289
Concept ID:
C1854467
Disease or Syndrome
Synonyms: Spastic paraplegia 13; SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13
SNOMED CT: Autosomal dominant spastic paraplegia type 13 (783698005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): HSPD1 (2q33.1)
 
Monarch Initiative: MONDO:0011532
OMIM®: 605280
Orphanet: ORPHA100994

Definition

A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33. [from SNOMEDCT_US]

Clinical features

From HPO
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
Urinary urgency
MedGen UID:
39315
Concept ID:
C0085606
Finding
Urge incontinence is the strong, sudden need to urinate.
Urinary bladder sphincter dysfunction
MedGen UID:
334804
Concept ID:
C1843663
Finding
Abnormal function of a sphincter of the urinary bladder.
Lower limb muscle weakness
MedGen UID:
324478
Concept ID:
C1836296
Finding
Weakness of the muscles of the legs.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Spastic paraplegia
MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Spastic gait
MedGen UID:
115907
Concept ID:
C0231687
Finding
Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.
Lower limb spasticity
MedGen UID:
220865
Concept ID:
C1271100
Finding
Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
Impaired vibration sensation in the lower limbs
MedGen UID:
338617
Concept ID:
C1849134
Finding
A decrease in the ability to perceive vibration in the legs.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary spastic paraplegia 13
Follow this link to review classifications for Hereditary spastic paraplegia 13 in Orphanet.

Professional guidelines

PubMed

Zaghloul A, Manoukian D, Barrett MC, Geronta I, Maizen C
J Pediatr Orthop 2021 Oct 1;41(9):559-565. doi: 10.1097/BPO.0000000000001942. PMID: 34387232
Tang YP, Gong JY, Setchell KDR, Zhang W, Zhao J, Wang JS
BMC Gastroenterol 2021 Apr 13;21(1):163. doi: 10.1186/s12876-021-01749-x. PMID: 33849447Free PMC Article
Erfanian Omidvar M, Torkamandi S, Rezaei S, Alipoor B, Omrani MD, Darvish H, Ghaedi H
J Neurol 2021 Jun;268(6):2065-2082. Epub 2019 Nov 19 doi: 10.1007/s00415-019-09633-1. PMID: 31745725

Recent clinical studies

Etiology

van de Venis L, van de Warrenburg B, Weerdesteyn V, Geurts ACH, Nonnekes J
Neurorehabil Neural Repair 2023 Jan;37(1):27-36. Epub 2023 Jan 25 doi: 10.1177/15459683221147839. PMID: 36695288Free PMC Article
Wang J, Fang F, Ding C, Li J, Wu Y, Zhang W, Bao X, Lv J, Wang X, Ren X; Paediatric Neurology Study Group
Dev Med Child Neurol 2023 Mar;65(3):416-423. Epub 2022 Sep 15 doi: 10.1111/dmcn.15385. PMID: 36109173
Xing F, Du J
Neurol Sci 2022 Aug;43(8):4989-4996. Epub 2022 Mar 28 doi: 10.1007/s10072-022-05921-3. PMID: 35348942
Erfanian Omidvar M, Torkamandi S, Rezaei S, Alipoor B, Omrani MD, Darvish H, Ghaedi H
J Neurol 2021 Jun;268(6):2065-2082. Epub 2019 Nov 19 doi: 10.1007/s00415-019-09633-1. PMID: 31745725
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M
Brain 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. PMID: 32979048Free PMC Article

Diagnosis

Wang J, Fang F, Ding C, Li J, Wu Y, Zhang W, Bao X, Lv J, Wang X, Ren X; Paediatric Neurology Study Group
Dev Med Child Neurol 2023 Mar;65(3):416-423. Epub 2022 Sep 15 doi: 10.1111/dmcn.15385. PMID: 36109173
Du J
J Clin Neurosci 2021 Mar;85:67-71. Epub 2021 Jan 15 doi: 10.1016/j.jocn.2020.11.036. PMID: 33581793
Erfanian Omidvar M, Torkamandi S, Rezaei S, Alipoor B, Omrani MD, Darvish H, Ghaedi H
J Neurol 2021 Jun;268(6):2065-2082. Epub 2019 Nov 19 doi: 10.1007/s00415-019-09633-1. PMID: 31745725
Parodi L, Coarelli G, Stevanin G, Brice A, Durr A
Curr Opin Neurol 2018 Aug;31(4):462-471. doi: 10.1097/WCO.0000000000000585. PMID: 29847346
Ranawaka U
Ceylon Med J 2006 Mar;51(1):1-3. doi: 10.4038/cmj.v51i1.1366. PMID: 16898027

Therapy

van de Venis L, van de Warrenburg B, Weerdesteyn V, Geurts ACH, Nonnekes J
Neurorehabil Neural Repair 2023 Jan;37(1):27-36. Epub 2023 Jan 25 doi: 10.1177/15459683221147839. PMID: 36695288Free PMC Article
Lin Q, Liu Y, Ye Z, Hu J, Cai W, Weng Q, Chen WJ, Wang N, Cao D, Lin Y, Fu Y
Orphanet J Rare Dis 2021 Sep 19;16(1):391. doi: 10.1186/s13023-021-02014-w. PMID: 34538260Free PMC Article
Diniz de Lima F, Faber I, Servelhere KR, Bittar MFR, Martinez ARM, Piovesana LG, Martins MP, Martins CR Jr, Benaglia T, de Sá Carvalho B, Nucci A, França MC Jr
Mov Disord 2021 Jul;36(7):1654-1663. Epub 2021 Feb 17 doi: 10.1002/mds.28523. PMID: 33595142
Servelhere KR, Faber I, Martinez A, Nickel R, Moro A, Germiniani FMB, Moscovich M, Blume TR, Munhoz RP, Teive HAG, França MC Jr
Arq Neuropsiquiatr 2018 Mar;76(3):183-188. doi: 10.1590/0004-282x20180013. PMID: 29809239
Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R
Brain 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273. PMID: 29126212Free PMC Article

Prognosis

Xing F, Du J
Neurol Sci 2022 Aug;43(8):4989-4996. Epub 2022 Mar 28 doi: 10.1007/s10072-022-05921-3. PMID: 35348942
Vander Stichele G, Durr A, Yoon G, Schüle R, Blackstone C, Esposito G, Buffel C, Oliveira I, Freitag C, van Rooijen S, Hoffmann S, Thielemans L, Cowling BS
BMC Neurol 2022 Mar 24;22(1):115. doi: 10.1186/s12883-022-02595-4. PMID: 35331153Free PMC Article
Tang YP, Gong JY, Setchell KDR, Zhang W, Zhao J, Wang JS
BMC Gastroenterol 2021 Apr 13;21(1):163. doi: 10.1186/s12876-021-01749-x. PMID: 33849447Free PMC Article
Pulido-Valdeolivas I, Gómez-Andrés D, Martín-Gonzalo JA, Rodríguez-Andonaegui I, López-López J, Pascual-Pascual SI, Rausell E
PLoS One 2018;13(3):e0192345. Epub 2018 Mar 8 doi: 10.1371/journal.pone.0192345. PMID: 29518090Free PMC Article
Haynes KB, Wimberly RL, VanPelt JM, Jo CH, Riccio AI, Delgado MR
J Pediatr Orthop 2018 Mar;38(3):152-156. doi: 10.1097/BPO.0000000000001115. PMID: 29309384

Clinical prediction guides

Xing F, Du J
Neurol Sci 2022 Aug;43(8):4989-4996. Epub 2022 Mar 28 doi: 10.1007/s10072-022-05921-3. PMID: 35348942
Du J
J Clin Neurosci 2021 Mar;85:67-71. Epub 2021 Jan 15 doi: 10.1016/j.jocn.2020.11.036. PMID: 33581793
Servelhere KR, Casseb RF, de Lima FD, Rezende TJR, Ramalho LP, França MC Jr
AJNR Am J Neuroradiol 2021 Mar;42(3):610-615. Epub 2021 Jan 21 doi: 10.3174/ajnr.A7017. PMID: 33478946Free PMC Article
Dong EL, Wang C, Wu S, Lu YQ, Lin XH, Su HZ, Zhao M, He J, Ma LX, Wang N, Chen WJ, Lin X
Mol Neurodegener 2018 Jul 6;13(1):36. doi: 10.1186/s13024-018-0269-1. PMID: 29980238Free PMC Article
Servelhere KR, Faber I, Martinez A, Nickel R, Moro A, Germiniani FMB, Moscovich M, Blume TR, Munhoz RP, Teive HAG, França MC Jr
Arq Neuropsiquiatr 2018 Mar;76(3):183-188. doi: 10.1590/0004-282x20180013. PMID: 29809239

Recent systematic reviews

Giannoccaro MP, Matteo E, Bartiromo F, Tonon C, Santorelli FM, Liguori R, Rizzo G
Neurol Sci 2022 Sep;43(9):5501-5511. Epub 2022 May 21 doi: 10.1007/s10072-022-06145-1. PMID: 35595875
Du J
J Clin Neurosci 2021 Mar;85:67-71. Epub 2021 Jan 15 doi: 10.1016/j.jocn.2020.11.036. PMID: 33581793
Erfanian Omidvar M, Torkamandi S, Rezaei S, Alipoor B, Omrani MD, Darvish H, Ghaedi H
J Neurol 2021 Jun;268(6):2065-2082. Epub 2019 Nov 19 doi: 10.1007/s00415-019-09633-1. PMID: 31745725

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...