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VIDEO ABSTRACT
Roussy-Lévy Syndrome: Pes
Cavus, Tendon Areflexia,
Amyotrophy, Gait Ataxia,
and Upper Limb Tremor
in a Patient with CMT
Neuropathy
ROHINI KUMAR
JAMIE BLACKBAND
VARUN JAIN
LEE KUGELMANN
SUB H. SUBRAMONY
APARNA WAGLE SHUKLA
ABSTRACT
Background: Roussy-Lévy syndrome (RLS) is characterized by postural hand tremor seen
in patients with familial autosomal dominant Charcot-Marie-Tooth (CMT) neuropathy.
Phenomenology Shown: This video demonstrates irregular, jerky bilateral kinetic, postural,
rest tremor affecting the right > left hand, along with pes cavus and gait ataxia in a patient
with CMT disease.
Educational Value: Pes cavus, tendon areflexia, sensory ataxia, and upper limb tremor
should prompt consideration of CMT neuropathy.
Highlights
This video abstract depicts a bilateral hand tremor characteristic of Roussy-Lévy syndrome
seen in patients with Charcot-Marie-Tooth disease neuropathy. The significance of the
abstract lies in the phenomenology and the physiology of the tremor seen in patients with
genetically confirmed duplication of PMP22 gene.
CORRESPONDING AUTHOR:
Aparna Wagle Shukla, MD
Norman Fixel Institute for
Neurological Diseases, 3009 SW
Williston Road, Gainesville, FL
32608, USA
aparna.shukla@neurology.
ufl.edu
KEYWORDS:
neuropathy; tremor; CMT;
Charcot-Marie-Tooth disease;
Roussy-Lévy syndrome
TO CITE THIS ARTICLE:
Kumar R, Blackband J, Jain V,
Kugelmann L, Subramony SH,
Wagle Shukla A. Roussy-Lévy
Syndrome: Pes Cavus, Tendon
Areflexia, Amyotrophy, Gait
Ataxia, and Upper Limb
Tremor in a Patient with CMT
Neuropathy. Tremor and Other
Hyperkinetic Movements. 2024;
14(1): 6, pp. 1–4. DOI: https://
doi.org/10.5334/tohm.846
*Author affiliations can be found in the back matter of this article
2Kumar et al. Tremor and Other Hyperkinetic Movements DOI: 10.5334/tohm.846
Roussy-Lévy syndrome was first described in 1926 in seven
members of a large kindred with dominantly inherited
neuropathy. These family members presented with
prominent features of an unsteady gait manifesting during
childhood, alongside pes cavus, generalized areflexia,
distal amyotrophy and weakness, clumsiness, and postural
tremor with limb ataxia. The familial neuropathy is related
to segmental duplication of the PMP22 gene in 70% of
cases (CMT1A). PMP22 duplications, accounts for the most
common inherited demyelinating neuropathy in North
America. In other cases, a point mutation of the PMP22 or
P0 gene results in neuropathy [1, 2]
A 25-year-old male with a diagnosis of Charcot Marie
Tooth disease (CMT; attributed to the PMP22 gene)
presented with distal progressive numbness, weakness,
and muscle wasting in the legs beginning when he was
11 years old. He soon began to experience balance
difficulties and pain in the feet that ascended to his
knees. By the age of 16, he noticed weakness in his
hands and difficulty gripping objects. At age 18, he began
to notice hand tremors, primarily action tremors, that
led to difficulty opening jars, handling utensils, writing,
and typing. The patient’s mother and grandmother had
similar neuropathy symptoms that spanned several
decades. Physical examination revealed a bilateral kinetic,
postural, and rest tremor affecting the right > left hand.
The tremor was irregular, jerky, and asymmetric. Tremor
severity was rated with the Fahn-Tolosa-Marin scale,
where scoring was 2 for kinetic, 2 for postural, and 1 for
rest tremor. Further clinical examination revealed features
of CMT disease, such as pes cavus, tendon areflexia,
slight amyotrophy, and gait ataxia, which was primarily
sensory and not cerebellar. Gait was wide-based, but the
tandem task was somewhat possible (Video 1). A nerve
Figure 1 A: Nerve conduction study consistent with primarily demyelinating neuropathy. Nerve conduction velocity in peroneal, median
and ulnar nerves < 38 m/sec; characteristic of CMT1A neuropathy.
B: Median and ulnar motor nerve testing revealing delayed latency.
C: Bilateral pes cavus.
D: Power spectrum analysis of postural tremor revealing a 5 Hz peak.
3Kumar et al. Tremor and Other Hyperkinetic Movements DOI: 10.5334/tohm.846
conduction study revealed a demyelinating neuropathy
affecting the peroneal, median, and ulnar nerves. The
nerve conduction velocity was < 38 m/sec, a finding
characteristic of CMT neuropathy. A power spectrum
analysis of postural tremor accelerometer recordings
revealed a peak around 5 Hz (Figure 1).
These findings of tremor manifesting in the setting
of familial neuropathy are consistent with a diagnosis
of Roussy-Lévy syndrome [1]. A bilateral action tremor
affecting the hands, even though emerging in the setting
of a familial neuropathy, could be potentially mislabeled as
an essential tremor. However, some clinical features were
not typical of ET, including the jerky nature of the tremor,
pronation-supination of the wrist rather than flexion-
extension, and severity of rest tremor relative to kinetic
tremor. Our patient’s peak frequency of 5 Hz is on the lower
side compared to a broader range of 4–12 Hz reported in
essential tremor [2]. Whether a CMT tremor is more like a
dystonic tremor than essential tremor is a question that
can be sorted by conducting larger studies.
The mechanisms underlying tremor seen in familial
neuropathy need investigation. While our patient did not
have prominent cerebellar features of gait ataxia or limb
dysmetria, as applicable to tremors arising in the setting
of inflammatory neuropathies [3], cerebellar dysfunction
is a leading hypothesis. As such, the cerebello-thalamo-
cortical pathway is considered one of the main central
pathways for the generation of many tremor disorders,
including essential tremor and Parkinson’s disease
tremors. Currently there are no definite treatments for
addressing the tremor. Nevertheless, our patient was
provided a trial of propranolol 20 mg twice daily, which
led to mild clinical improvement.
ETHICS AND CONSENT
Informed consent was obtained and patient was accurately
informed of and understood the purpose, risks, benefits,
and alternatives of a clinical study.
COMPETING INTERESTS
The authors have no competing interests to declare.
AUTHOR CONTRIBUTIONS
Rohini Kumar: study concept and design, acquisition,
analysis, and interpretation of data, draft of manuscript.
Jamie Blackband: study concept and design, acquisition,
analysis, and interpretation of data, draft of manuscript.
Varun Jain: study concept and design, acquisition,
analysis, and interpretation of data, draft of manuscript.
Lee Kugelmann: study concept and design, acquisition,
analysis, and interpretation of data, draft of manuscript.
Sub H. Subramony: study concept and design,
acquisition, analysis, and critical revision of manuscript for
intellectual content.
Aparna Wagle Shukla: study concept and design,
interpretation of data, critical revision of manuscript for
intellectual content.
AUTHOR AFFILIATIONS
Rohini Kumar, BS orcid.org/0000-0002-5919-962X
Department of Neurology, Norman Fixel Institute for Neurological
Diseases, University of Florida, Gainesville, Florida, United States
of America
Jamie Blackband orcid.org/0000-0002-7841-8461
Department of Neurology, Norman Fixel Institute for Neurological
Diseases, University of Florida, Gainesville, Florida, United States
of America
Video 1 Tremor in Roussy-Lévy syndrome. Tremor is shown at
rest in the right hand; however, it is more proximal than typically
seen in Parkinson’s disease. With arms outstretched, there is a
mild to moderate postural tremor on the right. Unlike essential
tremor, it has a jerky quality and the predominant movement is
wrist pronation-supination rather than flexion-extension. In the
wingbeat position, a jerky tremor of mild to moderate amplitude
is seen on the right. Mild kinetic tremor (right greater than left) is
seen on the finger-nose maneuver; the tremor is jerky and there
is no intentional component. During spiral drawing, moderate
amplitude tremor is seen on the right and mild tremor on the left.
During dot approximation, mild tremor is seen on the right and
trace on the left. Gait is wide-based, and the patient was unable to
tandem walk without needing to touch the wall with his left hand.
4Kumar et al. Tremor and Other Hyperkinetic Movements DOI: 10.5334/tohm.846
TO CITE THIS ARTICLE:
Kumar R, Blackband J, Jain V, Kugelmann L, Subramony SH, Wagle Shukla A. Roussy-Lévy Syndrome: Pes Cavus, Tendon Areflexia,
Amyotrophy, Gait Ataxia, and Upper Limb Tremor in a Patient with CMT Neuropathy. Tremor and Other Hyperkinetic Movements. 2024;
14(1): 6, pp. 1–4. DOI: https://doi.org/10.5334/tohm.846
Submitted: 27 November 2023 Accepted: 22 January 2024 Published: 08 February 2024
COPYRIGHT:
© 2024 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International
License (CC-BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source
are credited. See http://creativecommons.org/licenses/by/4.0/.
Tremor and Other Hyperkinetic Movements is a peer-reviewed open access journal published by Ubiquity Press.
Varun Jain, MD
Department of Neurology, Norman Fixel Institute for Neurological
Diseases, University of Florida, Gainesville, Florida, United States
of America
Lee Kugelmann, MMSc, CGC
Department of Neurology, Norman Fixel Institute for Neurological
Diseases, University of Florida, Gainesville, Florida, United States
of America
Sub H. Subramony, MD orcid.org/0000-0002-8052-9240
Department of Neurology, Norman Fixel Institute for Neurological
Diseases, University of Florida, Gainesville, Florida, United States
of America
Aparna Wagle Shukla, MD orcid.org/0000-0002-9757-9973
Department of Neurology, Norman Fixel Institute for Neurological
Diseases, University of Florida, Gainesville, Florida, United States
of America
REFERENCES
1. Saifee TA, Pareés I, Kassavetis P, Kaski D, Bronstein AM,
Rothwell JC, et al. Tremor in Charcot-Marie-Tooth disease: No
evidence of cerebellar dysfunction. Clinical Neurophysiology.
2015 Sep; 126(9): 1817–24. DOI: https://doi.org/10.1016/j.
clinph.2014.12.023
2. Wagle Shukla A. Diagnosis and Treatment of Essential
Tremor. Continuum (Minneap Minn). 2022 Oct 1; 28(5):
1333–1349. PMID: 36222768. DOI: https://doi.org/10.1212/
CON.0000000000001181
3. Schwingenschuh P, Saifee TA, Katschnig‐Winter P,
Reilly MM, Lunn MP, Manji H, et al. Cerebellar learning
distinguishes inflammatory neuropathy with and without
tremor. Neurology. 2013 Apr 17; 80(20): 1867–73. DOI:
https://doi.org/10.1212/WNL.0b013e318292a2b8
