MCID: HRD138
MIFTS: 26

Hereditary Motor and Sensory Neuropathy V

Categories: Rare diseases, Neuronal diseases, Muscle diseases, Genetic diseases, Eye 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
Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant 57 53
Hereditary Motor and Sensory Neuropathy Type 5 53 59
Cmt with Pyramidal Features 57 53
Hmsn 5 53 59
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 59
Hereditary Motor and Sensory Neuropathy 5 53
Spastic Paraplegia, Hereditary 73
Hmsn V 57
Hmsn5 57

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
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:

32
hereditary motor and sensory neuropathy v:
Onset and clinical course adult onset childhood onset slow progression
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Hereditary Motor and Sensory Neuropathy V

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)

MalaCards based summary : Hereditary Motor and Sensory Neuropathy V, is also known as peroneal muscular atrophy with pyramidal features, autosomal dominant, and has symptoms including leg cramps and pain in lower limb. 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 sensory neuropathy and spasticity

Related Diseases for Hereditary Motor and Sensory Neuropathy V

Symptoms & Phenotypes for Hereditary Motor and Sensory Neuropathy V

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus
hammertoes

Neurologic Central Nervous System:
extensor plantar responses
leg pain
increased muscle tone
slow paraparetic gait
mild pyramidal signs (variable expression)
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

Human phenotypes related to Hereditary Motor and Sensory Neuropathy V:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 sensory neuropathy 32 HP:0000763
2 spasticity 32 occasional (7.5%) HP:0001257
3 hypertonia 32 HP:0001276
4 dysphonia 32 HP:0001618
5 pes cavus 32 HP:0001761
6 hammertoe 32 HP:0001765
7 difficulty walking 32 HP:0002355
8 frequent falls 32 HP:0002359
9 distal muscle weakness 32 HP:0002460
10 distal sensory impairment 32 HP:0002936
11 decreased motor nerve conduction velocity 32 HP:0003431
12 peripheral axonal neuropathy 32 HP:0003477
13 babinski sign 32 HP:0003487
14 limb muscle weakness 32 HP:0003690
15 distal amyotrophy 32 HP:0003693
16 foot dorsiflexor weakness 32 HP:0009027

UMLS symptoms related to Hereditary Motor and Sensory Neuropathy V:


leg cramps, pain in lower limb

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

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 Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
3 Studying Cognition in SPG4 Completed NCT03104088
4 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428
5 Studying Non-motor Symptoms in SPG4 Recruiting NCT03204773
6 The Pre-SPG4 Study Recruiting NCT03206190 Not Applicable
7 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
8 Genetic and Physical Study of Childhood Nerve and Muscle Disorders Recruiting NCT01568658
9 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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