HMSN5
MCID: HRD138
MIFTS: 31

Hereditary Motor and Sensory Neuropathy V (HMSN5)

Categories: Eye diseases, 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 58 13
Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant 58 54
Hereditary Motor and Sensory Neuropathy Type 5 54 60
Cmt with Pyramidal Features 58 54
Hmsn V 58 60
Hmsn 5 54 60
Charcot-Marie-Tooth Neuropathy with Pyramidal Features, Autosomal Dominant 58
Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant 58
Charcot-Marie-Tooth Disease-Pyramidal Features Syndrome 60
Hereditary Motor and Sensory Neuropathy Type V 60
Hereditary Motor and Sensory Neuropathy 5 54
Spastic Paraplegia, Hereditary 74
Hmsn5 58

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
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:

33
hereditary motor and sensory neuropathy v:
Onset and clinical course adult onset childhood onset slow progression
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Hereditary Motor and Sensory Neuropathy V

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 64751Disease definitionHereditary 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hereditary Motor and Sensory Neuropathy V, also known as peroneal muscular atrophy with pyramidal features, autosomal dominant, is related to neuropathy, congenital hypomyelinating, 1, autosomal recessive and charcot-marie-tooth disease, 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 Botulinum Toxins have been mentioned in the context of this disorder. Related phenotypes are spasticity and dysphonia

OMIM : 58 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)

Related Diseases for Hereditary Motor and Sensory Neuropathy V

Diseases in the Neuropathy, Hereditary Motor and Sensory, Type Via family:

Hereditary Motor and Sensory Neuropathy V Hereditary Motor and Sensory Neuropathy, Type Iic
Neuropathy, Hereditary Motor and Sensory, Type Vib Gdap1-Related Hereditary Motor and Sensory Neuropathy

Diseases related to Hereditary Motor and Sensory Neuropathy V via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuropathy, congenital hypomyelinating, 1, autosomal recessive 10.0
2 charcot-marie-tooth disease 10.0
3 hereditary spastic paraplegia 10.0
4 sensory peripheral neuropathy 10.0
5 muscular atrophy 10.0
6 neuropathy 10.0
7 spastic paraparesis 10.0

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:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 occasional (7.5%) HP:0001257
2 dysphonia 33 HP:0001618
3 hypertonia 33 HP:0001276
4 sensory neuropathy 33 HP:0000763
5 babinski sign 33 HP:0003487
6 pes cavus 33 HP:0001761
7 decreased motor nerve conduction velocity 33 HP:0003431
8 difficulty walking 33 HP:0002355
9 foot dorsiflexor weakness 33 HP:0009027
10 limb muscle weakness 33 HP:0003690
11 lower limb pain 33 HP:0012514
12 frequent falls 33 HP:0002359
13 hammertoe 33 HP:0001765
14 peripheral axonal neuropathy 33 HP:0003477
15 distal muscle weakness 33 HP:0002460
16 distal amyotrophy 33 HP:0003693
17 distal sensory impairment 33 HP:0002936

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus
hammertoes

Neurologic Central Nervous System:
extensor plantar responses
leg cramps
leg pain
increased muscle tone
slow paraparetic gait
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

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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2 Botulinum Toxins Phase 2, Phase 3
3 Acetylcholine Release Inhibitors Phase 2, Phase 3
4 Cholinergic Agents Phase 2, Phase 3
5 Neurotransmitter Agents Phase 2, Phase 3
6
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
7
Choline Approved, Nutraceutical 62-49-7 305
8 N-Methylaspartate
9 Aspartic Acid

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
2 Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416 Not Applicable
3 Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
4 Studying Cognition in SPG4 Completed NCT03104088
5 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428
6 Studying Non-motor Symptoms in HSP Recruiting NCT03204773
7 The Pre-SPG4 Study Recruiting NCT03206190 Not Applicable
8 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
9 Genetic and Physical Study of Childhood Nerve and Muscle Disorders Recruiting NCT01568658
10 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Enrolling by invitation NCT02852278

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 Year
1
CMT with pyramidal features. Charcot-Marie-Tooth. ( 12601114 )
2003

Variations for Hereditary Motor and Sensory Neuropathy V

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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