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Hereditary spastic paraplegia 38(SPG38)

MedGen UID:
436764
Concept ID:
C2676732
Disease or Syndrome
Synonym: Spastic paraplegia 38, autosomal dominant
SNOMED CT: Autosomal dominant spastic paraplegia type 38 (783622001)
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.
 
Monarch Initiative: MONDO:0012867
OMIM®: 612335
Orphanet: ORPHA171617

Definition

A complex hereditary spastic paraplegia with characteristics of 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. [from SNOMEDCT_US]

Clinical features

From HPO
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Thenar muscle weakness
MedGen UID:
330427
Concept ID:
C1832276
Finding
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.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
First dorsal interossei muscle weakness
MedGen UID:
371289
Concept ID:
C1832277
Finding
First dorsal interossei muscle atrophy
MedGen UID:
371290
Concept ID:
C1832278
Finding
Distal amyotrophy
MedGen UID:
338530
Concept ID:
C1848736
Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Thenar muscle atrophy
MedGen UID:
355274
Concept ID:
C1864715
Finding
Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary spastic paraplegia 38
Follow this link to review classifications for Hereditary spastic paraplegia 38 in Orphanet.

Professional guidelines

Recent clinical studies

Etiology

Ortega Suero G, Abenza Abildúa MJ, Serrano Munuera C, Rouco Axpe I, Arpa Gutiérrez FJ, Adarmes Gómez AD, Rodríguez de Rivera FJ, Quintans Castro B, Posada Rodríguez I, Vadillo Bermejo A, Domingo Santos Á, Blanco Vicente E, Infante Ceberio I, Pardo Fernández J, Costa Arpín E, Painous Martí C, Muñoz García JE, Mir Rivera P, Montón Álvarez F, Bataller Alberola L, Gascón Bayarri J, Casasnovas Pons C, Vélez Santamaría V, López de Munain A, Fernández-Eulate G, Gazulla Abío J, Sanz Gallego I, Rojas Bartolomé L, Ayo Martín Ó, Segura Martín T, González Mingot C, Baraldés Rovira M, Sivera Mascaró R, Cubo Delgado E, Echavarría Íñiguez A, Vázquez Sánchez F, Bártulos Iglesias M, Casadevall Codina MT, Martínez Fernández EM, Labandeira Guerra C, Alemany Perna B, Carvajal Hernández A, Fernández Moreno C, Palacín Larroy M, Caballol Pons N, Ávila Rivera A, Navacerrada Barrero FJ, Lobato Rodríguez R, Sobrido Gómez MJ
Neurologia (Engl Ed) 2023 Jul-Aug;38(6):379-386. Epub 2023 Apr 28 doi: 10.1016/j.nrleng.2023.04.003. PMID: 37120112
Kartanou C, Kontogeorgiou Z, Rentzos M, Potagas C, Aristeidou S, Kapaki E, Paraskevas GP, Constantinides VC, Stefanis L, Papageorgiou SG, Houlden H, Panas M, Koutsis G, Karadima G
J Neurol Sci 2022 Nov 15;442:120450. Epub 2022 Oct 5 doi: 10.1016/j.jns.2022.120450. PMID: 36252286
Zouvelou V, Yubero D, Apostolakopoulou L, Kokkinou E, Bilanakis M, Dalivigka Z, Nikas I, Kollia E, Perez-Dueñas B, Macaya A, Marcé-Grau A, Voutetakis A, Anagnostopoulou K, Kekou K, Sofocleus C, Veltra D, Kokkinis X, Fryssira H, Torres RJ, Amstrong J, Santorelli FM, Artuch R, Pons R
Eur J Paediatr Neurol 2019 May;23(3):427-437. Epub 2019 Feb 14 doi: 10.1016/j.ejpn.2019.02.001. PMID: 30799092
Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA
J Inherit Metab Dis 2015 Jan;38(1):99-110. Epub 2014 Sep 2 doi: 10.1007/s10545-014-9759-7. PMID: 25178427
Alvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E; Group for the Study of the Genetics of Spastic Paraplegia
BMC Neurol 2010 Oct 8;10:89. doi: 10.1186/1471-2377-10-89. PMID: 20932283Free PMC Article

Diagnosis

Chen YJ, Wang MW, Qiu YS, Yuan RY, Wang N, Lin X, Chen WJ
Mov Disord 2023 Sep;38(9):1750-1755. Epub 2023 Jul 2 doi: 10.1002/mds.29522. PMID: 37394769
Ortega Suero G, Abenza Abildúa MJ, Serrano Munuera C, Rouco Axpe I, Arpa Gutiérrez FJ, Adarmes Gómez AD, Rodríguez de Rivera FJ, Quintans Castro B, Posada Rodríguez I, Vadillo Bermejo A, Domingo Santos Á, Blanco Vicente E, Infante Ceberio I, Pardo Fernández J, Costa Arpín E, Painous Martí C, Muñoz García JE, Mir Rivera P, Montón Álvarez F, Bataller Alberola L, Gascón Bayarri J, Casasnovas Pons C, Vélez Santamaría V, López de Munain A, Fernández-Eulate G, Gazulla Abío J, Sanz Gallego I, Rojas Bartolomé L, Ayo Martín Ó, Segura Martín T, González Mingot C, Baraldés Rovira M, Sivera Mascaró R, Cubo Delgado E, Echavarría Íñiguez A, Vázquez Sánchez F, Bártulos Iglesias M, Casadevall Codina MT, Martínez Fernández EM, Labandeira Guerra C, Alemany Perna B, Carvajal Hernández A, Fernández Moreno C, Palacín Larroy M, Caballol Pons N, Ávila Rivera A, Navacerrada Barrero FJ, Lobato Rodríguez R, Sobrido Gómez MJ
Neurologia (Engl Ed) 2023 Jul-Aug;38(6):379-386. Epub 2023 Apr 28 doi: 10.1016/j.nrleng.2023.04.003. PMID: 37120112
Garcia-Cazorla À, Mochel F, Lamari F, Saudubray JM
J Inherit Metab Dis 2015 Jan;38(1):19-40. Epub 2014 Nov 21 doi: 10.1007/s10545-014-9776-6. PMID: 25413954
Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA
J Inherit Metab Dis 2015 Jan;38(1):99-110. Epub 2014 Sep 2 doi: 10.1007/s10545-014-9759-7. PMID: 25178427
Lau KK, Ching CK, Mak CM, Chan YW
Hong Kong Med J 2009 Jun;15(3):217-20. PMID: 19494379

Therapy

Bastani PB, Kordjazi M, Oveisgharan S, Abdi S
J Clin Neurophysiol 2023 Feb 1;40(2):173-179. Epub 2021 Nov 23 doi: 10.1097/WNP.0000000000000874. PMID: 34817445
van de Venis L, van de Warrenburg BPC, Weerdesteyn V, van Lith BJH, Geurts ACH, Nonnekes J
Trials 2021 Jan 7;22(1):32. doi: 10.1186/s13063-020-04932-9. PMID: 33413555Free PMC Article
Ardolino G, Bocci T, Nigro M, Vergari M, Di Fonzo A, Bonato S, Cogiamanian F, Cortese F, Cova I, Barbieri S, Priori A
J Spinal Cord Med 2021 Jan;44(1):46-53. Epub 2018 Dec 3 doi: 10.1080/10790268.2018.1543926. PMID: 30508408Free PMC Article

Prognosis

Tan X, Guo Y, Liu Y, Liu C, Pei L
Ann N Y Acad Sci 2021 Nov;1503(1):38-47. Epub 2021 Mar 4 doi: 10.1111/nyas.14584. PMID: 33660862
Ouyang YS, Zhang YX, Meng H, Wu XN, Qi QW
Medicine (Baltimore) 2018 Sep;97(38):e12437. doi: 10.1097/MD.0000000000012437. PMID: 30235725Free PMC Article
Jia X, Madireddy L, Caillier S, Santaniello A, Esposito F, Comi G, Stuve O, Zhou Y, Taylor B, Kilpatrick T, Martinelli-Boneschi F, Cree BAC, Oksenberg JR, Hauser SL, Baranzini SE
Ann Neurol 2018 Jul;84(1):51-63. Epub 2018 Jul 3 doi: 10.1002/ana.25263. PMID: 29908077Free 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
Alvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E; Group for the Study of the Genetics of Spastic Paraplegia
BMC Neurol 2010 Oct 8;10:89. doi: 10.1186/1471-2377-10-89. PMID: 20932283Free PMC Article

Clinical prediction guides

Alecu JE, Saffari A, Ziegler M, Jordan C, Tam A, Kim S, Leung E, Szczaluba K, Mierzewska H, King SD, Santorelli FM, Yoon G, Trombetta B, Kivisäkk P, Zhang B, Sahin M, Ebrahimi-Fakhari D
Mov Disord 2023 Sep;38(9):1742-1750. Epub 2023 Jul 22 doi: 10.1002/mds.29524. PMID: 37482941Free PMC Article
Chen YJ, Wang MW, Qiu YS, Yuan RY, Wang N, Lin X, Chen WJ
Mov Disord 2023 Sep;38(9):1750-1755. Epub 2023 Jul 2 doi: 10.1002/mds.29522. PMID: 37394769
Rezende Filho FM, Bremner F, Pedroso JL, de Andrade JBC, Marianelli BF, Lourenço CM, Marques-Júnior W, França MC Jr, Kok F, Sallum JMF, Parkinson MH, Barsottini OG, Giunti P
Mov Disord 2021 Sep;36(9):2027-2035. Epub 2021 Apr 23 doi: 10.1002/mds.28612. PMID: 33893680
Tan X, Guo Y, Liu Y, Liu C, Pei L
Ann N Y Acad Sci 2021 Nov;1503(1):38-47. Epub 2021 Mar 4 doi: 10.1111/nyas.14584. PMID: 33660862
Garcia-Cazorla À, Mochel F, Lamari F, Saudubray JM
J Inherit Metab Dis 2015 Jan;38(1):19-40. Epub 2014 Nov 21 doi: 10.1007/s10545-014-9776-6. PMID: 25413954

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