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Neuronopathy, distal hereditary motor, autosomal recessive

MedGen UID:: 1779821
•Concept ID:: C5548369
•: Disease or Syndrome

Synonym:	Autosomal recessive distal hereditary motor neuropathy
SNOMED CT:	Autosomal recessive distal hereditary motor neuropathy (1156850001)

Monarch Initiative:	MONDO:0015363
OMIM® Phenotypic series:	PS604320
Orphanet:	ORPHA140468

Definition

Autosomal recessive form of distal hereditary motor neuropathy. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Neuronopathy, distal hereditary motor, autosomal recessive

Neuronopathy, distal hereditary motor, autosomal recessive

Recent clinical studies

Etiology

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.

Zambon AA, Pini V, Bosco L, Falzone YM, Munot P, Muntoni F, Previtali SC
Brain 2023 Mar 1;146(3):806-822. doi: 10.1093/brain/awac452. PMID: 36445400 Free PMC Article

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.

Ververis A, Dajani R, Koutsou P, Aloqaily A, Nelson-Williams C, Loring E, Arafat A, Mubaidin AF, Horany K, Bader MB, Al-Baho Y, Ali B, Muhtaseb A, DeSpenza T Jr, Al-Qudah AA, Middleton LT, Zamba-Papanicolaou E, Lifton R, Christodoulou K
J Med Genet 2020 Mar;57(3):178-186. Epub 2019 Sep 11 doi: 10.1136/jmedgenet-2019-106108. PMID: 31511340 Free PMC Article

Unraveling the genetics of distal hereditary motor neuronopathies.

Irobi J, Dierick I, Jordanova A, Claeys KG, De Jonghe P, Timmerman V
Neuromolecular Med 2006;8(1-2):131-46. doi: 10.1385/nmm:8:1-2:131. PMID: 16775372

A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.

Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S, El-Khateeb M, Kyriacou K, Kyriakides T, Al-Qudah AK, Middleton L
Ann Neurol 2000 Dec;48(6):877-84. PMID: 11117544

See all (4)

Diagnosis

COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.

Sait H, Pandey M, Phadke SR
J Genet 2024;103 PMID: 39080983

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.

Zambon AA, Pini V, Bosco L, Falzone YM, Munot P, Muntoni F, Previtali SC
Brain 2023 Mar 1;146(3):806-822. doi: 10.1093/brain/awac452. PMID: 36445400 Free PMC Article

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.

Recessively transmitted predominantly motor neuropathies.

Parman Y, Battaloğlu E
Handb Clin Neurol 2013;115:847-61. doi: 10.1016/B978-0-444-52902-2.00048-5. PMID: 23931818

See all (4)

Prognosis

COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.

Sait H, Pandey M, Phadke SR
J Genet 2024;103 PMID: 39080983

See all (1)

Clinical prediction guides

COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.

Sait H, Pandey M, Phadke SR
J Genet 2024;103 PMID: 39080983

Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.

Kamada M, Kawarai T, Miyamoto R, Kawakita R, Tojima Y, Montecchiani C, D'Onofrio L, Caltagirone C, Orlacchio A, Kaji R
Parkinsonism Relat Disord 2018 Jan;46:79-83. Epub 2017 Oct 21 doi: 10.1016/j.parkreldis.2017.10.012. PMID: 29107646

Recessively transmitted predominantly motor neuropathies.

Parman Y, Battaloğlu E
Handb Clin Neurol 2013;115:847-61. doi: 10.1016/B978-0-444-52902-2.00048-5. PMID: 23931818

A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.

Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S, El-Khateeb M, Kyriacou K, Kyriakides T, Al-Qudah AK, Middleton L
Ann Neurol 2000 Dec;48(6):877-84. PMID: 11117544

See all (4)

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Neuronopathy, distal hereditary motor, autosomal recessive

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

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