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Distal spinal muscular atrophy

MedGen UID:
98274
•Concept ID:
C0393541
•
Disease or Syndrome
Synonyms: Distal hereditary motor neuropathy; Neuronopathy, distal hereditary motor
SNOMED CT: Distal spinal muscular atrophy (230247001)
 
Related genes: REEP1, SLC5A7, HSPB8, IGHMBP2, HSPB1, GARS1
 
Monarch Initiative: MONDO:0018894
Orphanet: ORPHA53739

Professional guidelines

PubMed

Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M, Rojas-García R, Argente-Escrig H, Vázquez-Costa JF, Muelas N, Vílchez JJ, Sivera R, Millet E, Barreiro M, Díaz-Manera J, Turon-Sans J, Cortés-Vicente E, Querol L, Ramírez-Jiménez L, Martínez-Rubio D, Sánchez-Monteagudo A, Espinós C, Sevilla T, Lupo V
Eur J Neurol 2021 Apr;28(4):1334-1343. Epub 2021 Jan 10 doi: 10.1111/ene.14700. PMID: 33369814
Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes.
Nicholson G, Kennerson M, Brewer M, Garbern J, Shy M
Adv Exp Med Biol 2009;652:201-6. doi: 10.1007/978-90-481-2813-6_13. PMID: 20225027

Recent clinical studies

Etiology

Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M, Rojas-García R, Argente-Escrig H, Vázquez-Costa JF, Muelas N, Vílchez JJ, Sivera R, Millet E, Barreiro M, Díaz-Manera J, Turon-Sans J, Cortés-Vicente E, Querol L, Ramírez-Jiménez L, Martínez-Rubio D, Sánchez-Monteagudo A, Espinós C, Sevilla T, Lupo V
Eur J Neurol 2021 Apr;28(4):1334-1343. Epub 2021 Jan 10 doi: 10.1111/ene.14700. PMID: 33369814
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.
Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME
Neuromolecular Med 2020 Mar;22(1):68-72. Epub 2019 Aug 29 doi: 10.1007/s12017-019-08564-4. PMID: 31468327
Molecular genetics of distal hereditary motor neuropathies.
Irobi J, De Jonghe P, Timmerman V
Hum Mol Genet 2004 Oct 1;13 Spec No 2:R195-202. doi: 10.1093/hmg/ddh226. PMID: 15358725
Distal spinal muscular atrophy.
Muthukrishnan J, Varadarajulu R, Mehta SR, Singh AP
J Assoc Physicians India 2003 Nov;51:1113-5. PMID: 15260402
Lack of serum neutralizing antibody against poliovirus in patients with juvenile distal spinal muscular atrophy of upper extremities.
Kao KP, Liu WT, Wang SJ, Chern CM
Brain Dev 1993 May-Jun;15(3):219-21. doi: 10.1016/0387-7604(93)90068-j. PMID: 8214348

Diagnosis

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.
Harkness JR, Thomas HB, Urquhart JE, Jamieson P; Genomics England Research Consortium, O'Keefe RT, Kingston HM, Deshpande C, Newman WG
Eur J Med Genet 2024 Feb;67:104907. Epub 2023 Dec 21 doi: 10.1016/j.ejmg.2023.104907. PMID: 38141875Free PMC Article
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M, Rojas-García R, Argente-Escrig H, Vázquez-Costa JF, Muelas N, Vílchez JJ, Sivera R, Millet E, Barreiro M, Díaz-Manera J, Turon-Sans J, Cortés-Vicente E, Querol L, Ramírez-Jiménez L, Martínez-Rubio D, Sánchez-Monteagudo A, Espinós C, Sevilla T, Lupo V
Eur J Neurol 2021 Apr;28(4):1334-1343. Epub 2021 Jan 10 doi: 10.1111/ene.14700. PMID: 33369814
190 th ENMC international workshop: Spinal muscular atrophy with respiratory distress/distal spinal muscular atrophy type 1: 11-13 May 2012, Naarden, The Netherlands.
van der Pol WL, Talim B, Pitt M, von Au K
Neuromuscul Disord 2013 Jul;23(7):602-9. Epub 2013 May 29 doi: 10.1016/j.nmd.2013.04.004. PMID: 23726377
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.
Hiel JA, van Engelen BG, Weemaes CM, Broeks A, Verrips A, ter Laak H, Vingerhoets HM, van den Heuvel LP, Lammens M, Gabreëls FJ, Last JI, Taylor AM
Neurology 2006 Jul 25;67(2):346-9. doi: 10.1212/01.wnl.0000224878.22821.23. PMID: 16864838
A case of distal spinal muscular atrophy with unusual clinical course.
Testa D, Carenini L
Acta Neurol (Napoli) 1983 Oct;5(5):398-401. PMID: 6660063

Therapy

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Kosmanopoulos GP, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network, McCray BA
Brain 2025 Jan 7;148(1):238-251. doi: 10.1093/brain/awae201. PMID: 38917025
Balance control in patients with distal versus proximal muscle weakness.
Horlings CG, Küng UM, van Engelen BG, Voermans NC, Hengstman GJ, van der Kooi AJ, Bloem BR, Allum JH
Neuroscience 2009 Dec 29;164(4):1876-86. Epub 2009 Sep 29 doi: 10.1016/j.neuroscience.2009.09.063. PMID: 19796669

Prognosis

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.
Harkness JR, Thomas HB, Urquhart JE, Jamieson P; Genomics England Research Consortium, O'Keefe RT, Kingston HM, Deshpande C, Newman WG
Eur J Med Genet 2024 Feb;67:104907. Epub 2023 Dec 21 doi: 10.1016/j.ejmg.2023.104907. PMID: 38141875Free PMC Article
Inherited myopathy plus: Double-trouble from rare neuromuscular disorders.
Granger A, Beecher G, Liewluck T, Nicolau S, Flanigan KM, Laughlin RS, Milone M
Neuromuscul Disord 2023 Feb;33(2):153-160. Epub 2022 Dec 15 doi: 10.1016/j.nmd.2022.12.009. PMID: 36628841
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.
Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME
Neuromolecular Med 2020 Mar;22(1):68-72. Epub 2019 Aug 29 doi: 10.1007/s12017-019-08564-4. PMID: 31468327
A case of distal spinal muscular atrophy with unusual clinical course.
Testa D, Carenini L
Acta Neurol (Napoli) 1983 Oct;5(5):398-401. PMID: 6660063
Distal spinal muscular atrophy. A clinical and genetic study of 8 kindreds.
Pearn J, Hudgson P
J Neurol Sci 1979 Oct;43(2):183-91. doi: 10.1016/0022-510x(79)90114-x. PMID: 512678

Clinical prediction guides

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Kosmanopoulos GP, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network, McCray BA
Brain 2025 Jan 7;148(1):238-251. doi: 10.1093/brain/awae201. PMID: 38917025
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.
Harkness JR, Thomas HB, Urquhart JE, Jamieson P; Genomics England Research Consortium, O'Keefe RT, Kingston HM, Deshpande C, Newman WG
Eur J Med Genet 2024 Feb;67:104907. Epub 2023 Dec 21 doi: 10.1016/j.ejmg.2023.104907. PMID: 38141875Free PMC Article
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.
Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME
Neuromolecular Med 2020 Mar;22(1):68-72. Epub 2019 Aug 29 doi: 10.1007/s12017-019-08564-4. PMID: 31468327
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E
Am J Hum Genet 2016 Oct 6;99(4):974-983. Epub 2016 Sep 22 doi: 10.1016/j.ajhg.2016.08.006. PMID: 27666369Free PMC Article
Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15.
Sambuughin N, Sivakumar K, Selenge B, Lee HS, Friedlich D, Baasanjav D, Dalakas MC, Goldfarb LG
J Neurol Sci 1998 Nov 26;161(1):23-8. doi: 10.1016/s0022-510x(98)00264-0. PMID: 9879677

Recent systematic reviews

The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.
Porro F, Rinchetti P, Magri F, Riboldi G, Nizzardo M, Simone C, Zanetta C, Faravelli I, Corti S
J Neurol Sci 2014 Nov 15;346(1-2):35-42. Epub 2014 Sep 16 doi: 10.1016/j.jns.2014.09.010. PMID: 25248952

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