Pes Kavus Ve Charcot Marie Tooth Hastalığı: Olgu Sunumu Ve Literatürün Gözden Geçirilmesi

Pes Kavus ve Charcot Marie Tooth Hastalığı: Olgu Sunumu ve Literatürün Gözden Geçirilmesi

Pes Cavus and Charcot Marie Tooth Disease: A Case Report and Brief Review of the Literature

Pes Cavus and Charcot Marie Tooth Disease / Pes Kavus ve Charcot Marie Tooth Hastalığı

Levent Ediz1, Özcan Hız1, Mehmet Fethi Ceylan2, Murat Toprak1, Yasemin Özkan1 1Department of Physical Medicine And Rehabilitation, 2Department of Orthopaedics, Yüzüncü Yıl University Medical Faculty, Van, Turkey.

Özet Abstract Charcot-Marie-Tooth (CMT) hastalığı hem genetik hem de klinik Charcot-Marie-Tooth (CMT) is a disease that is highly heteroge- olarak oldukça heterojen bir hastalıktır. Tanı için klinik ve elek- neous, both clinically and genetically. Clinical and electrophysiologi- trofizyolojik veriler esastır. CMT li çocuklar erken yaştan itibaren cal data are essential for diagnosis. Children with CMT experience edinilmiş ayak zayıflığı, kontraktür ve deformiteler (pes kavus ve acquired foot weakness, contracture and deformity (pes cavus and çekiç parmaklar) geliştirebilirler. CMT de ayak ve ayak bileğini hammer toes) from an early age. Early intervention targeting the hedef alan erken girişimler uzun dönem özürlülüğü önleyebilir. foot and ankle may prevent long-term disability in CMT. Here we Burada biz sonradan edinilmiş pes kavuslu ve çekiç parmaklı bir present a CMT patient with acquired pes cavus and hammer toes CMT hastasını sunmakta ve kısaca CMT nin tanısı, tedavisi ve re- and review the literature briefly for diagnosis, treatment, and re- habilitasyonu için literatür taraması yapmaktayız. Sonuç olarak biz habilitation of CMT. As a result we conclude that CMT should also sonradan edinilmiş pes kavus ve çekiç parmağın ayırıcı tanısında come into mind in the differential diagnosis of acquired pes cavus CMT nin de akla gelmesi kanısındayız. and hammer toes.

Anahtar Kelimeler Keywords Pes Kavus, Çekiç Parmak, Charcot Marie Tooth Hastalığı. Pes Cavus, Hammer Toe, Charcot Marie Tooth Disease.

DOI: 10.4328/JCAM.293 Received: 22.06.2010 Accepted: 12.07.2010 Printed: 01.09.2011 J Clin Anal Med 2011;2(3):149-5 1 Corresponding Author: Özcan Hız, Yüzüncü Yıl University Medical Faculty, Department of Physical Medicine And Rehabilitation, Van, 65100, Turkey. Phone:+905053696340 · E-mail: [email protected]

140 | Journal of Clinical and Analytical Medicine Journal of Clinical and Analytical Medicine | 149 Pes Cavus and Charcot Marie Tooth Disease / Pes Kavus ve Charcot Marie Tooth Hastalığı

Introduction IntroductionExamination revealed bilateral pes cavus, hammer toes (FigureExamination revealed bilateral pes cavus, hammer toes (Figure The hereditary motor and sensory neuropathies (HMSN) alsoThe hereditary1a, 1b) and motor poor and grip sensory strength, neuropathies with thinning (HMSN) of the left also hand 1a,and 1b) and poor grip strength, with thinning of the left hand and called Charcot-Marie-Tooth disease (CMT) describe a spectrumcalled of Charcot-Marie-Toothdistal forearm musculature. disease (CMT)He had describereduced astrength spectrum in ofthe lowerdistal forearm musculature. He had reduced strength in the lower slowly progressive inherited disorders affecting peripheral motorslowly progressiveextremities, inheritedatrophy of disorders the intrinsic affecting left hand peripheral muscles, motor decreased extremities, atrophy of the intrinsic left hand muscles, decreased and sensory nerves. The underlying pathophysiology is a specificand sensory deep nerves.tendon reflexesThe underlying in the lowerpathophysiology extremities, isand a specificdifficulty deepwalk- tendon reflexes in the lower extremities, and difficulty walk- mutation in one of several myelin genes that results in compromisemutation ing in onone hisof several heels. Sensationmyelin genes was that diminished results in incompromise the left hand ing and on his heels. Sensation was diminished in the left hand and of the myelin integrity [1]. It is classified according to clinical offea the- myelinfeet to integrity temperature, [1]. It pinprick,is classified and according vibration. toTone clinical was fea normal- feet in to temperature, pinprick, and vibration. Tone was normal in tures, genetic inheritance, and electrophysiological and histopathotures,- geneticthe upper inheritance, extremities and butelectrophysiological was increased at theand ankles.histopatho He -had thedif- upper extremities but was increased at the ankles. He had dif- logical findings. The Dyck classification developed in logical the 1970s findings.ficulty maintaining The Dyck balance. classification Upon neurological developed examination, in the 1970s thereficulty maintaining balance. Upon neurological examination, there subdivided the HMSN (CMT) into types 1 through 7 based uponsubdivided was themild HMSN weakness (CMT) (4/5) into in kneetypes flexion1 through and 7 extension,based upon and anklewas mild weakness (4/5) in knee flexion and extension, and ankle the clinical and electrophysiologic features [2]. The prevalencethe of clinical dorsoflexion and electrophysiologic and planter flexion features were [2]. 3/5, The and prevalence left hand ofdorsiflexion dorsoflexion and planter flexion were 3/5, and left hand dorsiflexion CMT ranges from a rate of 8–41 per 100,000 people dependingCMT on rangeswas 1/5. from Atrophy a rate ofwas 8–41 noted per in 100,000 intrensic people feet, left depending hand and on peroneal was 1/5. Atrophy was noted in intrensic feet, left hand and peroneal the geographical region of origin [3]. The most common subtypesthe geographical muscle groups. region Nerve of origin conduction [3]. The velocity most common measurements subtypes disclosed muscle groups. Nerve conduction velocity measurements disclosed are CMT1 (demyelinating with autosomal dominant transmission)are CMT1 marked (demyelinating slowing in bothwith theautosomal left radial dominant and left transmission)median and the bilatmarked- slowing in both the left radial and left median and the bilat- and CMT2 (axonal and usually dominant). CMT1A is the mostand CMT2eral tibial (axonal nerves. and usuallyThe left dominant). radial sensory, CMT1A left median is the mostsensory, eralleft tibial nerves. The left radial sensory, left median sensory, left common subgroup which results from the duplication of a genomiccommon ulnar subgroup sensory, which and resultsbilateral from sural the sensory duplication latencies of a genomicwere prolonged, ulnar sensory, and bilateral sural sensory latencies were prolonged, fragment that encompasses the PMP22 gene on chromosomefragment 17 with that decreased encompasses amplitudes the PMP22 (demyelinating gene on chromosomeform with low 17 NCVs.). with decreased amplitudes (demyelinating form with low NCVs.). [4]. CMT1A affects 60 to 80% of the general CMT population [4].[5]. CMT1AInvestigation affects 60 with to 80% electromyography of the general CMT revealed population minimal [5]. voluntary Investigation with electromyography revealed minimal voluntary The wide range of foot/ankle manifestations in CMT1A compliThe- wideactivity range in of the foot/ankle foot intrensec manifestations muscles bilaterally in CMT1A and compli left hand- musactivity- in the foot intrensec muscles bilaterally and left hand mus- cates the assessment, diagnosis and therapy. Children with CMT1Acates thecles. assessment, There was diagnosis no evidence and therapy.of conduction Children block. with We CMT1A diagnosed cles. the There was no evidence of conduction block. We diagnosed the experience foot weakness, contracture and deformity, pes cavusexperience patient foot as weakness,HSMN (CMT) contracture according and to deformity,the clinical pesand cavuselectrophysi patient- as HSMN (CMT) according to the clinical and electrophysi- from an early age [6]. The disease is characterized by weakness fromand an ologicalearly age findings. [6]. The disease is characterized by weakness and ological findings. atrophy of the distal muscle groups of the limbs, gait disturbance,atrophy of the distal muscle groups of the limbs, gait disturbance, impaired sensation in the hands and feet, decreased and/or absentimpaired Discussion sensation in the hands and feet, decreased and/or absent Discussion deep tendon reflexes, and skeletal deformities such as pes cavusdeep and tendonThe pesreflexes, cavus andfoot skeletal appears deformities in childhood such as as a pescomplex cavus deformity.and The pes cavus foot appears in childhood as a complex deformity. hammer toes. Sensory loss of all modalities is seen [7]. Pes cavushammer While toes. Sensorythe etiology loss mayof all occasionally modalities isbe seen idiopathic, [7]. Pes its cavus appearance While the etiology may occasionally be idiopathic, its appearance is thought to be an almost universal manifestation of CMT1A, paris thought- is oftento be an the almost initial universal manifestation manifestation of a progressive of CMT1A, neuromuscular paris often the initial manifestation of a progressive neuromuscular ticularly in older children and adults [6,8]. In previous studies, ticularlypes disorder. in older Thechildren deformity and adults presents [6,8]. significant In previous difficulties studies, pes both thedisorder. pa- The deformity presents significant difficulties both the pa- cavus was apparent in early childhood in only 11-33 % of cases,cavus but wastient apparent and the in physiotherapy early childhood stuff. in only The 11-33symptomatic % of cases, pes butcavus foottient and the physiotherapy stuff. The symptomatic pes cavus foot it increased to 62.5-80% during adolescence [7,9]. Foot and ankleit increased can beto 62.5-80% disabling. duringThe deformity adolescence and [7,9]. the pain Foot worsen and ankle with time.can be disabling. The deformity and the pain worsen with time. muscle imbalance, reduced strength in all muscles of feet, intrinsicmuscle imbalance,There are threereduced broad strength etiologic in all categories muscles of resulting feet, intrinsic in a pes There ca- are three broad etiologic categories resulting in a pes ca- foot weakness, restriction of ankle dorsiflexion flexibility foot during weakness,vus deformity restriction [11]. of The ankle congenital dorsiflexion pes cavus flexibility category during (includes vus deformity [11]. The congenital pes cavus category (includes weight-bearing which is a reflection of Achilles tendon shorteningweight-bearing the arthrogrypotic which is a foot,reflection the residua of Achilles of talipes, tendon equinovarus shortening and the the arthrogrypotic foot, the residua of talipes, equinovarus and the or osseous block in the ankle motrise are the pathogenetic mechaor osseous- idiopathic block in cavovarus). the ankle motrise Posttraumatic are the pathogenetic pes cavus category mecha - that idiopathic are cavovarus). Posttraumatic pes cavus category that are nisms of pes cavus in CMT1A (6). Charcot-Marie-Tooth diseasenisms ofpartially pes cavus neuromuscular in CMT1A in (6). origin Charcot-Marie-Tooth (compartment syndrome disease or crushpartially neuromuscular in origin (compartment syndrome or crush should be suspected if a patient has cavus foot and distal symmetricshould beinjury) suspected and partially if a patient structural has cavus in originfoot and (fracture distal symmetric malunion or burninjury) and partially structural in origin (fracture malunion or burn atrophy. Orthotic treatment of the feet can improve the qualityatrophy. of contracture). Orthotic treatment This group of the is feetuncommon can improve and difficult the quality to reconstruct. of contracture). This group is uncommon and difficult to reconstruct. life of patients with CMT by increasing their stability and confilife- of patientsThe neuromuscular with CMT bypes increasing cavus category their stability include andpoliomyelitis, confi- Thece- neuromuscular pes cavus category include poliomyelitis, ce- dence when walking [10]. dence whenrebral walking palsy, [10].spinal dysraphism, and degenerative diseases of rebralthe palsy, spinal dysraphism, and degenerative diseases of the Here we present a CMT patient with pes cavus and hammer toesHere wenervous present systema CMT suchpatient as CMTwith pes disease cavus is and the hammer most common, toes itnervous is system such as CMT disease is the most common, it is who had been undiagnosed formerly by his medical practitionerwho hadalso been the undiagnosedmost important, formerly since bymany his cases medical of pes practitioner cavus deformi also- the most important, since many cases of pes cavus deformi- and a neurosurgeon. and a neurosurgeon.ty represent the early signs of a progressive CMT disease. CMTty represent the early signs of a progressive CMT disease. CMT disease encompasses a group of clinically and genetically heterodisease- encompasses a group of clinically and genetically hetero- Case Report Case Reportgeneous peripheral neuropathies. This disease affects males moregeneous peripheral neuropathies. This disease affects males more A 16-year-old male was admitted to Physical Medicine and RehaA 16-year-old- than females male was by aadmitted 5.1:3 ratio to [12].Physical The Medicine most commonly and Reha used- CMTthan females by a 5.1:3 ratio [12]. The most commonly used CMT bilitation department in November 2009 with the complaint of probilitation- classification department in combinesNovember clinical 2009 with findings the complaint with of pro the- patternclassification ofin- combines clinical findings with the pattern ofin- gressive gait disturbance and leg weakness and drop left handgressive for heritance gait disturbance (autosomal and dominant,leg weakness autosomal and drop recesive, left hand or for X-linked) heritance (autosomal dominant, autosomal recesive, or X-linked) 3 years. At 11 years of age he presented with progressive tingling3 years. and At 11 the years electrophysiological of age he presented findings with progressive or those tingling from pathologicaland the electrophysiological findings or those from pathological in his fingers and toes, diminished left hand strength, and difficultyin his fingersanatomy and (demyelination toes, diminished or leftaxonal hand degeneration). strength, and There difficulty are 7 mainanatomy (demyelination or axonal degeneration). There are 7 main climbing stairs. He had been admitted to a neurosurgery clinicclimbing in categories stairs. He of had CMT. been Most admitted cases tocan a neurosurgerybe included in clinic type inCMT categories 1A of CMT. Most cases can be included in type CMT 1A another centre 4 months ago but any diagnosis had not been yield.another (demyelinatingcentre 4 months forms, ago but with any lowdiagnosis conduction had not velocities been yield. and auto(demyelinating- forms, with low conduction velocities and autosomal dominant transmission) characterized by progressive footsomal dominant transmission) characterized by progressive foot (a) (b) (a) and ankle weakness, contractures and pes(b) cavus deformity [6,7].and ankle weakness, contractures and pes cavus deformity [6,7]. Patients may have diminished deep tendon reflexes, dysphasiaPatients and may have diminished deep tendon reflexes, dysphasia and French nerve involvement [13]. There is also a reported 10 percentFrench nerve involvement [13]. There is also a reported 10 percent incidence of scoliosis [14]. The characteristic changes seen in incidencethe of scoliosis [14]. The characteristic changes seen in the upper extremities are intrinsic atrophy of the hands and weaknessupper extremities are intrinsic atrophy of the hands and weakness of the radially innervated muscle of the forearms. The foot oftenof has the radially innervated muscle of the forearms. The foot often has cavus deformities and claw toes. Also, the forefoot has a tendencycavus deformities and claw toes. Also, the forefoot has a tendency to be adducted and the heel to be in varus [15]. Since the firstto and be adducted and the heel to be in varus [15]. Since the first and Figure 1. (a) Pes cavus of the CMT patient (b) Pes cavus and ham- Figure 1. (a)most Pes cavusseverely of the CMT affected patient (b)function Pes cavus andin hamall -cases is ambulation, orthosesmost severely affected function in all cases is ambulation, orthoses mer toes of the CMT patient. mer toes ofare the CMTessential patient. [16]. Orthotic treatment of the feet can improve arethe essential [16]. Orthotic treatment of the feet can improve the

141150 | Journal Journal of of Clinical Clinical and and Analytical Analytical Medicine Medicine 141 | Journal of Clinical and Analytical Medicine Pes Cavus and Charcot Marie Tooth Disease / Pes Kavus ve Charcot Marie Tooth Hastalığı quality of life of patients with CMT by increasing their stability and training in CMT patients [19]. At present, there is no etiological confidence when walking. In the large majority of patients there is medical treatment in CMT. High dose Ascorbic acid may repress no severe weakness in the quadriceps and the glutei muscles, and PMP22 gene expression by acting on intracellular cyclic adenosine ambulation is preserved for the whole life even though special foot- monophosphate levels and adenylate cyclase activity and induce wear and orthotics are necessary to correct footdrop, foot rotation remyelination and improve locomotor functioning in CMT1A pa- and plantarflexor failure, which are the major problems in CMT1A tients [20]. [17]. A specific design should be made for each patient, in accor- As a result we conclude that CMT should come into mind in the dance with the morphology and functionality of the foot. However, differential diagnosis of pes cavus and hammer toes. foot orthoses for patients with CMT should always include a rocker sole in their design. This component should cover the entire forefoot. It should be wide and not very thick [10]. Rotation and walking is corrected by wedges under the foot orthoses and the sole of the shoe with a bit of heel [18]. Surgery is essential for severe foot deformities in CMT. Exercise intolerance and undue fatigue are common complaints in patients with Charcot–Marie–Tooth (CMT) disease [19]. Con- ventional rehabilitation programs with interval-training exercise (ITE) improves cardiorespiratory capacities, isokinetic concentric strength, functional ability measurements, fatigue and pain during

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