Roussy-Lévy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ROUSSY-LEVY SYNDROME
Hereditary areflexic dystasia, Roussy-Lévy type
Number of Symptoms 37
OrphanetNr: 3115
OMIM Id: 180800
ICD-10: G60.0
UMLs: C0205713
MeSH:
MedDRA:
Snomed: 45853006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Autosomal dominant inheritance
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0003134) Abnormality of peripheral nerve conduction Very frequent [Orphanet] 38 / 7739
2
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
3
 (HPO:0003382) Hypertrophic nerve changes 6 / 7739
4
 (HPO:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
5
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
6
 (HPO:0001270) Motor delay 322 / 7739
7
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
8
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
9
 (HPO:0003481) Segmental peripheral demyelination/remyelination 12 / 7739
10
 (HPO:0007351) Upper limb postural tremor 2 / 7739
11
 (HPO:0002936) Distal sensory impairment 96 / 7739
12
 (HPO:0003383) Onion bulb formation 30 / 7739
13
 (HPO:0001265) Hyporeflexia 208 / 7739
14
 (HPO:0002066) Gait ataxia 327 / 7739
15
 (HPO:0001284) Areflexia 198 / 7739
16
 (HPO:0002751) Kyphoscoliosis 131 / 7739
17
 (HPO:0001838) Rocker bottom foot 85 / 7739
18
 (HPO:0001765) Hammertoe 63 / 7739
19
 (HPO:0001763) Pes planus 176 / 7739
20
 (HPO:0001760) Abnormality of the foot 96 / 7739
21
 (HPO:0001761) Pes cavus 225 / 7739
22
 (HPO:0001822) Hallux valgus 70 / 7739
23
 (HPO:0002715) Abnormality of the immune system 46 / 7739
24
 (HPO:0002460) Distal muscle weakness 122 / 7739
25
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
26
 (HPO:0003693) Distal amyotrophy 118 / 7739
27
 (OMIM) Foot ulceration 2 / 7739
28
 (OMIM) Segmental demyelination/remyelination on nerve biopsy 9 / 7739
29
 (HPO:0003621) Juvenile onset 105 / 7739
30
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
31
 (OMIM) Foot infections leading to amputation 1 / 7739
32
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
33
 (OMIM) Decreased number of myelinated fibers 6 / 7739
34
 (OMIM) 'Onion bulb' formations may be present 1 / 7739
35
 (OMIM) Kyphoscoliosis may be present 3 / 7739
36
 (OMIM) Upper limb action tremor 1 / 7739
37
 (HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The condition was described independently by Roussy and Levy (1926), by Symonds and Shaw (1926), who called it 'familial claw-foot with absent tendon jerks', and by Rombold and Riley (1926), who called it an 'abortive type of Friedreich ...
Molecular genetics OMIM Auer-Grumbach et al. (1998) provided evidence suggesting a close relationship between Roussy-Levy syndrome and CMT1A (118220). They found that 3 members of a 4-generation family with Roussy-Levy syndrome carried the classic CMT1A PMP22 duplication (601097.0001). The etiology of ...