Hereditary motor and sensory neuropathy type 5

General Information (adopted from Orphanet):

Synonyms, Signs: HMSN 5
HMSN V
PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT
CHARCOT-MARIE-TOOTH DISEASE WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT
CMT WITH PYRAMIDAL FEATURES
CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT
HMSN5
Charcot-Marie-Tooth disease - pyramidal features
Number of Symptoms 29
OrphanetNr: 64751
OMIM Id: 600361
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant hereditary axonal motor and sensory neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003487) Babinski sign 179 / 7739
2
 (HPO:0002355) Difficulty walking 61 / 7739
3
 (HPO:0001257) Spasticity occasional [HPO:skoehler] 251 / 7739
4
 (HPO:0003477) Peripheral axonal neuropathy 62 / 7739
5
 (HPO:0001618) Dysphonia 28 / 7739
6
 (HPO:0002359) Frequent falls 24 / 7739
7
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
8
 (HPO:0002936) Distal sensory impairment 96 / 7739
9
 (HPO:0000763) Sensory neuropathy 78 / 7739
10
 (HPO:0001276) Hypertonia 317 / 7739
11
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
12
 (HPO:0001761) Pes cavus 225 / 7739
13
 (HPO:0001765) Hammertoe 63 / 7739
14
 (HPO:0002460) Distal muscle weakness 122 / 7739
15
 (HPO:0003394) Muscle cramps 106 / 7739
16
 (HPO:0003693) Distal amyotrophy 118 / 7739
17
 (HPO:0003581) Adult onset 117 / 7739
18
 (OMIM) Mild pyramidal signs (variable expression) 4 / 7739
19
 (OMIM) Spastic dysphonia 1 / 7739
20
 (OMIM) Nerve biopsy often consistent with axonal neuropathy 1 / 7739
21
 (OMIM) Spasticity may be present 1 / 7739
22
 (OMIM) Slow paraparetic gait 1 / 7739
23
 (HPO:0011463) Childhood onset 65 / 7739
24
 (OMIM) Normal or mildly decreased motor nerve conduction velocities (NCV) 15 / 7739
25
 (OMIM) Brisk tendon reflexes 1 / 7739
26
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
27
 (HPO:0003677) Slow progression 134 / 7739
28
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
29
 (HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Dyck and Lambert (1968) described 8 patients in 2 kindreds in whom peroneal muscular atrophy was associated with hereditary spastic paraplegia (SPG), and classified the disorder as hereditary motor and sensory neuropathy type V (HMSN5). Harding and Thomas ...