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Roussy-Lévy syndrome

MedGen UID:
64430
Concept ID:
C0205713
Disease or Syndrome
Synonyms: Hereditary areflexic dystasia; Roussy Levy hereditary areflexic dystasia; Roussy-Levy disease; Roussy-Levy Syndrome
SNOMED CT: Roussy-Levy syndrome (45853006); Roussy-Lévy syndrome (45853006); Hereditary ataxia-muscular atrophy syndrome (45853006)
 
Genes (locations): MPZ (1q23.3); PMP22 (17p12)
 
Monarch Initiative: MONDO:0008392
OMIM®: 180800
Orphanet: ORPHA3115

Definition

Roussy-Levy syndrome is an autosomal dominant disorder characterized by early onset of prominent ataxia followed by late onset of mild motor involvement. Symptoms progress very slowly, and affected individuals may remain ambulatory throughout life (Auer-Grumbach et al., 1998; Plante-Bordeneuve et al., 1999). [from OMIM]

Clinical features

From HPO
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Hammertoe
MedGen UID:
209712
Concept ID:
C1136179
Anatomical Abnormality
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Action tremor
MedGen UID:
65875
Concept ID:
C0234376
Sign or Symptom
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Hypertrophic nerve changes
MedGen UID:
322038
Concept ID:
C1832776
Finding
Segmental peripheral demyelination/remyelination
MedGen UID:
335873
Concept ID:
C1843077
Finding
A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.
Distal sensory impairment
MedGen UID:
335722
Concept ID:
C1847584
Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Onion bulb formation
MedGen UID:
376237
Concept ID:
C1847906
Finding
Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Decreased number of peripheral myelinated nerve fibers
MedGen UID:
346872
Concept ID:
C1858285
Finding
A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).
Decreased motor nerve conduction velocity
MedGen UID:
388130
Concept ID:
C1858729
Finding
A type of decreased nerve conduction velocity that affects the motor neuron.
Upper limb postural tremor
MedGen UID:
357212
Concept ID:
C1867138
Finding
A type of tremors that is triggered by holding an arm in a fixed position.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Distal amyotrophy
MedGen UID:
338530
Concept ID:
C1848736
Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Abnormality of the immune system
MedGen UID:
867388
Concept ID:
C4021753
Pathologic Function
An abnormality of the immune system.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRoussy-Lévy syndrome
Follow this link to review classifications for Roussy-Lévy syndrome in Orphanet.

Professional guidelines

PubMed

Beloribi-Djefaflia S, Attarian S
Rev Neurol (Paris) 2023 Jan-Feb;179(1-2):35-48. Epub 2022 Dec 30 doi: 10.1016/j.neurol.2022.11.006. PMID: 36588067
Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J
J Neurol Neurosurg Psychiatry 2022 May;93(5):530-538. Epub 2022 Feb 9 doi: 10.1136/jnnp-2021-328483. PMID: 35140138
Stino AM, Naddaf E, Dyck PJ, Dyck PJB
Muscle Nerve 2021 Feb;63(2):157-169. Epub 2020 Sep 11 doi: 10.1002/mus.27046. PMID: 32914902

Recent clinical studies

Etiology

Planté-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G
Ann Neurol 1999 Nov;46(5):770-3. doi: 10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u. PMID: 10553995
Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, Bouchard JP
Can J Neurol Sci 1976 Nov;3(4):279-86. doi: 10.1017/s0317167100025464. PMID: 1087179

Diagnosis

Bartosik-Psujek H, Stelmasiak Z
Ann Univ Mariae Curie Sklodowska Med 2001;56:393-5. PMID: 11977346
Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, Bouchard JP
Can J Neurol Sci 1976 Nov;3(4):279-86. doi: 10.1017/s0317167100025464. PMID: 1087179
Oelschlager R, White HH, Schimke RN
Acta Neurol Scand 1971;47(1):80-90. doi: 10.1111/j.1600-0404.1971.tb07466.x. PMID: 5576221

Therapy

Latimer PR, Braden DH
Can Psychiatr Assoc J 1975 Jun;20(4):287-9. doi: 10.1177/070674377502000407. PMID: 1182641

Prognosis

Carvalho AA, Vital A, Ferrer X, Latour P, Lagueny A, Brechenmacher C, Vital C
J Peripher Nerv Syst 2005 Mar;10(1):85-92. doi: 10.1111/j.1085-9489.2005.10112.x. PMID: 15703022
Planté-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G
Ann Neurol 1999 Nov;46(5):770-3. doi: 10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u. PMID: 10553995

Clinical prediction guides

Kontogeorgiou Z, Nikolaou K, Kartanou C, Breza M, Panas M, Karadima G, Koutsis G
J Peripher Nerv Syst 2019 Mar;24(1):125-130. Epub 2019 Feb 6 doi: 10.1111/jns.12305. PMID: 30653784
Breit S, Wächter T, Schöls L, Gasser T, Nägele T, Freudenstein D, Krüger R
J Neurol Neurosurg Psychiatry 2009 Feb;80(2):235-6. doi: 10.1136/jnnp.2008.145656. PMID: 19151022
Carvalho AA, Vital A, Ferrer X, Latour P, Lagueny A, Brechenmacher C, Vital C
J Peripher Nerv Syst 2005 Mar;10(1):85-92. doi: 10.1111/j.1085-9489.2005.10112.x. PMID: 15703022
Planté-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G
Ann Neurol 1999 Nov;46(5):770-3. doi: 10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u. PMID: 10553995

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