HMSN5
MCID: HRD138
MIFTS: 32

Hereditary Motor and Sensory Neuropathy V (HMSN5)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hereditary Motor and Sensory Neuropathy V

MalaCards integrated aliases for Hereditary Motor and Sensory Neuropathy V:

Name: Hereditary Motor and Sensory Neuropathy V 57 13 6
Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant 57 20
Hereditary Motor and Sensory Neuropathy Type 5 20 58
Cmt with Pyramidal Features 57 20
Hmsn V 57 58
Hmsn 5 20 58
Charcot-Marie-Tooth Neuropathy with Pyramidal Features, Autosomal Dominant 57
Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant 57
Charcot-Marie-Tooth Disease-Pyramidal Features Syndrome 58
Hereditary Motor and Sensory Neuropathy Type V 58
Hereditary Motor and Sensory Neuropathy 5 20
Spastic Paraplegia, Hereditary 70
Hmsn5 57

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
usually begins in feet and legs (peroneal distribution)
variable age of onset (range 4 to 47 years)
interfamilial and intrafamilial clinical heterogeneity
see for an autosomal recessive form


HPO:

31
hereditary motor and sensory neuropathy v:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course adult onset slow progression childhood onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Hereditary Motor and Sensory Neuropathy V

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 64751 Definition Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.

MalaCards based summary : Hereditary Motor and Sensory Neuropathy V, also known as peroneal muscular atrophy with pyramidal features, autosomal dominant, is related to spasticity and charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a, and has symptoms including pain in lower limb and leg cramps. An important gene associated with Hereditary Motor and Sensory Neuropathy V is MFN2 (Mitofusin 2). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Related phenotypes are spasticity and dysphonia

OMIM® : 57 Hereditary motor and sensory neuropathies (HMSN) are a heterogeneous group of peripheral nervous system disorders affecting motor and sensory function. HMSN I, also known as Charcot-Marie-Tooth (CMT) disease, or peroneal muscular atrophy, type 1, is a demyelinating neuropathy (see CMT1B; 118200) and HMSN II, also known as CMT type 2, is an axonal neuropathy (see CMT2A1; 118210). See also HMSN III (145900) and HMSN IV (266500). For an autosomal recessive disorder with similarities to HMSN V, see 607731. (600361) (Updated 20-May-2021)

Related Diseases for Hereditary Motor and Sensory Neuropathy V

Graphical network of the top 20 diseases related to Hereditary Motor and Sensory Neuropathy V:



Diseases related to Hereditary Motor and Sensory Neuropathy V

Symptoms & Phenotypes for Hereditary Motor and Sensory Neuropathy V

Human phenotypes related to Hereditary Motor and Sensory Neuropathy V:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 occasional (7.5%) HP:0001257
2 dysphonia 31 HP:0001618
3 hypertonia 31 HP:0001276
4 sensory neuropathy 31 HP:0000763
5 pes cavus 31 HP:0001761
6 decreased motor nerve conduction velocity 31 HP:0003431
7 babinski sign 31 HP:0003487
8 hammertoe 31 HP:0001765
9 limb muscle weakness 31 HP:0003690
10 distal muscle weakness 31 HP:0002460
11 frequent falls 31 HP:0002359
12 difficulty walking 31 HP:0002355
13 distal sensory impairment 31 HP:0002936
14 distal amyotrophy 31 HP:0003693
15 peripheral axonal neuropathy 31 HP:0003477
16 foot dorsiflexor weakness 31 HP:0009027
17 lower limb pain 31 HP:0012514

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
pes cavus
hammertoes

Neurologic Central Nervous System:
leg cramps
extensor plantar responses
leg pain
increased muscle tone
brisk tendon reflexes
more
Neurologic Peripheral Nervous System:
frequent falls
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
foot drop
more

Clinical features from OMIM®:

600361 (Updated 20-May-2021)

UMLS symptoms related to Hereditary Motor and Sensory Neuropathy V:


pain in lower limb; leg cramps

Drugs & Therapeutics for Hereditary Motor and Sensory Neuropathy V

Drugs for Hereditary Motor and Sensory Neuropathy V (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2 Cholinergic Agents Phase 2, Phase 3
3 Neurotransmitter Agents Phase 2, Phase 3
4 Botulinum Toxins Phase 2, Phase 3
5
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
6
Atorvastatin Approved Phase 2 134523-00-5 60823
7
Evolocumab Approved Phase 1, Phase 2 1256937-27-5
8
Resveratrol Investigational Phase 2 501-36-0 445154
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
10 Antirheumatic Agents Phase 2
11 Antioxidants Phase 2
12 Cathartics Phase 2
13 Gastrointestinal Agents Phase 2
14 Anti-Inflammatory Agents Phase 2
15 Protective Agents Phase 2
16 Platelet Aggregation Inhibitors Phase 2
17 Laxatives Phase 2
18 Analgesics Phase 2
19 Anti-Inflammatory Agents, Non-Steroidal Phase 2
20 Analgesics, Non-Narcotic Phase 2
21 Anticholesteremic Agents Phase 1, Phase 2
22 Antimetabolites Phase 1, Phase 2
23 Hypolipidemic Agents Phase 1, Phase 2
24 Lipid Regulating Agents Phase 1, Phase 2
25
Idebenone Approved, Investigational 58186-27-9
26
Choline Approved, Nutraceutical 62-49-7 305
27
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
28
Aspartic acid Approved, Nutraceutical 56-84-8 5960
29 N-Methylaspartate

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Botulinum Toxin in Patients With Hereditary Spastic Paraplegia: a Randomized, Double-blind, Placebo-controlled, Crossover Study Completed NCT02604186 Phase 2, Phase 3
2 Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5 Completed NCT02314208 Phase 2 Xenbilox;Tahor
3 Design and Validation of a Modular Physiotherapy Concept for the Treatment of Hereditary Spastic Spinal Paralysis (HSP) - a Randomized Study Completed NCT03961906 Phase 2
4 PCSK9 Inhibitor Treatment for Patients With Hereditary Spastic Paraplegia Type 5 Recruiting NCT04101643 Phase 1, Phase 2 evolocumab
5 A Pilot Study of Repetitive Transcranial Magnetic Stimulation for Improvement of Gait in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416
6 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Completed NCT02852278
7 Nuclear Magnetic Spectroscopy for the Evaluation of Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
8 Studying Cognition in SPG4 Compared to Healthy Controls Completed NCT03104088
9 Improving Gait Adaptability in Hereditary Spastic Paraplegia During Task-specific Training on the C-Mill: Towards Evidence-Based and Individually Tailored Rehabilitation Recruiting NCT04180098
10 Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood Recruiting NCT01568658
11 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
12 Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders Recruiting NCT03981276
13 Registry and Natural History Study for AP-4 Associated Hereditary Spastic Paraplegia (AP-4-HSP) Recruiting NCT04712812
14 Studying the Presymptomatic and Early Phase of SPG4 Recruiting NCT03206190
15 Disease Natural History and Biomarkers of SPG3A, SPG4 and SPG31 Terminated NCT02859428

Search NIH Clinical Center for Hereditary Motor and Sensory Neuropathy V

Genetic Tests for Hereditary Motor and Sensory Neuropathy V

Anatomical Context for Hereditary Motor and Sensory Neuropathy V

Publications for Hereditary Motor and Sensory Neuropathy V

Articles related to Hereditary Motor and Sensory Neuropathy V:

# Title Authors PMID Year
1
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. 57
18336586 2008
2
Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy. 57
15482954 2004
3
CMT with pyramidal features. Charcot-Marie-Tooth. 57
12601114 2003
4
Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity. 57
10996781 2000
5
Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. 57
9497266 1998
6
Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature. 57
1557949 1992
7
Peroneal muscular atrophy with pyramidal features. 57
6707656 1984
8
Classification of the hereditary ataxias and paraplegias. 57
6133167 1983
9
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. 57
5652992 1968
10
Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family. 61
9352453 1997

Variations for Hereditary Motor and Sensory Neuropathy V

ClinVar genetic disease variations for Hereditary Motor and Sensory Neuropathy V:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DYNC1H1 NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) SNV Uncertain significance 694849 rs201272954 GRCh37: 14:102483555-102483555
GRCh38: 14:102017218-102017218
2 GARS1 NM_002047.4(GARS1):c.1809+10_1809+12del Microsatellite Uncertain significance 694994 rs747338292 GRCh37: 7:30668290-30668292
GRCh38: 7:30628674-30628676
3 PLD3 , PRX NM_181882.3(PRX):c.4059_4061GGA[6] (p.Glu1361del) Microsatellite Uncertain significance 215547 rs139624657 GRCh37: 19:40900180-40900182
GRCh38: 19:40394273-40394275

Expression for Hereditary Motor and Sensory Neuropathy V

Search GEO for disease gene expression data for Hereditary Motor and Sensory Neuropathy V.

Pathways for Hereditary Motor and Sensory Neuropathy V

GO Terms for Hereditary Motor and Sensory Neuropathy V

Sources for Hereditary Motor and Sensory Neuropathy V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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