Joint Contracture Joint Stiffness

► [Limitation (loss) of (active and passive) joint motion]

The issue discussed in the current section encompasses a heterogeneous group of conditions, both inherited and acquired, isolated and associated with syndromic and nonsyndromic malformation spectra, localized to one joint and generalized. An introduction to the contractural abnormalities developing after birth is first provided, followed by a discussion of the congenital forms, which represent the main focus of the section.

Flexion contracture and joint stiffness may occur as late manifestations of conditions causing joint and/or surrounding tissue infiltration (sarcoidosis, amyloidosis), hemorrhage (trauma, hemophilia), or inflammation (rheumatoid arthritis, systemic lupus erythematosus, dermatomyositis, scleroderma, gout, calcium pyrophosphate dihydrate crystal deposition disease, eosinophilic fasciitis) (Waugh et al. 1980; Kane-Wanger et al. 1992). Induration and sclerosis of the tendons and ligaments, subcutaneous tissue, and muscles of a given joint may all be responsible for loss of the full range of joint motion. Joint contracture can also follow electrical or thermal burns, prolonged immobilization (Woo et al. 1975), or endstage degenerative arthropathy. In amyloidosis, joint contracture may be related to articular and periarticular amyloid deposition, muscle or nerve involvement, or a combination of factors. Every joint can be affected, including those in the fingers (Bussiere et al. 1976). Several patterns of joint involvement, often followed by flexion contracture, may occur in patients with diabetes mellitus, including periarthritis (stiff shoulder due to capsular fibrosis and thickening) (Bridgman 1972), cheiroarthropathy (contractures at the proximal interphalangeal joints, less commonly at other sites, in the absence of palmar fascial thickening, tentatively attributed to connective tissue abnormalities, vascular changes, neuropathy, and myopathy) (Choulot et al. 1980),Dupuytren's

Syndrome Schwartz Jampel Stiffness

Fig. 8.1 a-d. Progressive pseudorheumatoid arthropathy. a In a 13-year-old girl. Note fixed flexion deformity of the knees, hips, elbows and fingers. b-d In a 17-year-old boy. b There is enlargement of the proximal and distal ends of phalanges, joint space narrowing in the carpal, metacarpo-phalangeal, and interphalangeal joints, and flexion contractures of the fingers. There is also diffuse osteoporosis. c Observe severe platyspondyly, irregular end-plates, and anterior vertebral beaking. d Note premature osteoarthritis, deformed femoral capital epiphyses, and coxa vara. (From Kaibara et al. 1983)

Fig. 8.1 a-d. Progressive pseudorheumatoid arthropathy. a In a 13-year-old girl. Note fixed flexion deformity of the knees, hips, elbows and fingers. b-d In a 17-year-old boy. b There is enlargement of the proximal and distal ends of phalanges, joint space narrowing in the carpal, metacarpo-phalangeal, and interphalangeal joints, and flexion contractures of the fingers. There is also diffuse osteoporosis. c Observe severe platyspondyly, irregular end-plates, and anterior vertebral beaking. d Note premature osteoarthritis, deformed femoral capital epiphyses, and coxa vara. (From Kaibara et al. 1983)

contracture (interphalangeal joint contracture of the 4th and 5th fingers due to thickening of the palmar fascia) (Noble et al. 1984), and flexor tenosynovitis (interphalangeal joint contracture due to a constricted flexor tendon sheath). Multiple joint stiffness and large-joint contractures are manifestations of the autosomal recessive progressive pseudorheumatoid arthropathy (OMIM 208230), a rare skeletal dysplasia with progressive arthropathy mimicking rheumatoid arthritis (Wynne-Davies 1982; Adak et al. 1998). The disease generally manifests between the ages of 3 and

8 years with waddling gait, muscle weakness, and painful swelling of multiple joints, particularly in the hands. Initial symptoms, i.e., morning stiffness and decreased mobility of the cervical spine, suggest rheumatoid arthritis, but synovitis is absent, the sedimentation rate is within normal range, and rheumatoid factor tests are negative. Moreover, soft tissues around the joints are not involved, and swelling of the finger joints is caused by osseous expansion of the ends of the phalanges. Arthropathy is characteristically progressive, and affected patients become

Campto Dysplasia

Fig. 8.2 a, b. Spondyloepiphyseal dysplasia, Stanescu type in the 14-year-old boy whose case is illustrated in Fig. 4.32. a Note relatively short trunk, flexion contracture of knees, hips, and elbows, and genu valgum. The boy's height is normal. b Note bulbous expansion of both ends of the phalanges with megaepiphyses, flexion of distal interphalangeal joints, and premature osteoarthri-tis. These changes are indistinguishable from those of progressive pseudorheumatoid dysplasia. (From Nishimura et al. 1998)

Fig. 8.2 a, b. Spondyloepiphyseal dysplasia, Stanescu type in the 14-year-old boy whose case is illustrated in Fig. 4.32. a Note relatively short trunk, flexion contracture of knees, hips, and elbows, and genu valgum. The boy's height is normal. b Note bulbous expansion of both ends of the phalanges with megaepiphyses, flexion of distal interphalangeal joints, and premature osteoarthri-tis. These changes are indistinguishable from those of progressive pseudorheumatoid dysplasia. (From Nishimura et al. 1998)

crippled because of multiple joint contractures, with fixed flexion deformity of the hips, knees, and elbows. Roentgenographic changes include generalized osteoporosis; bulbous enlargement of both ends of the phalanges in the hands; platyspondyly, Scheuermann-like lesions, and kyphoscoliosis in the spine; long bone epiphyseal dysplasia with premature osteoarthritis; and multiple flexion deformities (Fig. 8.1 a-d). Universal platyspondyly results in short stature. The head and face are normal (Kaibara et al. 1983; Spranger et al. 1983). Spondyloepiphyseal dysplasia (Stanescu type) shares several clinical and radiographic features with progressive pseudorheu-matoid dysplasia, including multiple joint swelling and stiffness, progressive joint contractures, platy-spondyly, bulbous widening of the phalanges, and premature osteoarthritis (Fig. 8.2a,b). However, normal height, coxa valga, lack of vertebral tonguing, and autosomal dominant inheritance unambiguously identify patients with Stanescu type of dysplasia (Nishimura et al. 1998). Paradoxical joint stiffness may occur in conditions with joint laxity, such as Ehlers-Danlos syndrome, Marfan syndrome, and ho-mocystinuria. In these disorders, ligamentous laxity and recurrent dislocations lead to precocious os-teoarthritis (during the 3rd or 4th decade of life) and, possibly, to flexion joint contracture. Commonly involved joints are the hands, knees, and shoulders (Lewkonia and Pope 1985; Beighton and Horan 1969). Another potential mechanism is persistent joint effusion and hemarthrosis from repetitive subclinical trauma, again caused by ligamentous and capsular laxity (Osborn et al. 1981). It is of interest for the differential diagnosis that joint contracture occurs only in the 5th digits of the hands in Marfan syndrome, whereas it occurs in multiple digits, the elbows, and the knees in homocystinuria (Brenton et al. 1972).

Congenital joint contractures may be divided in two broad groups, depending on whether the ultimate cause is intrinsic or extrinsic to the developing fetus (Jones 1997). Intrinsic factors include neurological abnormalities, such as anencephaly, microcephaly, hydranencephaly, unilateral cerebral hypoplasia, holoprosencephaly, meningomyelocele, anterior motor horn cell degeneration, aberrant myelin formation, and several others (Hageman et al. 1985,1988, 1994; Gorgen-Pauly et al. 1999; Borochowitz et al. 1991; Kobayashi et al. 1995; Novotniy 1998); muscle abnormalities, such as fetal myopathies, myotonic dystrophy (Steinert syndrome), myotonic chondro-dystrophy (Schwartz-Jampel syndrome), and muscle agenesis (Jobsis et al. 1999; Hageman et al. 1986; Wieacker et al. 1985); and joint and/or contiguous tis-

Myotonic Dystrophy

Fig. 8.3 a, b. Amyoplasia (arthrogryposis multiplex congenita) in the 11-year-old boy whose case is illustrated in Fig. 4.38b. Note a fixed flexion of both hands at the wrist, b equinovarus deformity, and gracile appearance of the tubular bones, especially the fibula. The abnormalities were bilateral and symmetrical. Additional findings in this boy were bilateral hip subluxation (Fig. 4.38b) and scoliosis

Fig. 8.3 a, b. Amyoplasia (arthrogryposis multiplex congenita) in the 11-year-old boy whose case is illustrated in Fig. 4.38b. Note a fixed flexion of both hands at the wrist, b equinovarus deformity, and gracile appearance of the tubular bones, especially the fibula. The abnormalities were bilateral and symmetrical. Additional findings in this boy were bilateral hip subluxation (Fig. 4.38b) and scoliosis sue problems, such as lack of joint development, synostosis, congenital skin anomalies (restrictive der-mopathy), aberrant fixation of joints (diastrophic dysplasia), and aberrant soft tissue fixations (popliteal pterygium syndrome). In contradistinction, extrinsic factors act through a mechanical restriction of the fetus, such as fetal crowding and constraint from any cause (multiple births, oligohydramnios) (Hall 1985). As the term is applied currently, arthrogryposis is not a disease itself, but a birth defect consisting in multiple nonprogressive joint contractures of prenatal onset. The defect occurs in approximately 1 in 3000

births, and can be seen in isolation or in association with other abnormalities. Over 150 syndromic and nonsyndromic conditions manifest with multiple congenital joint contractures at birth, and the etiolog-ic and genetic basis of these is very heterogeneous (Hall 1985; Ladda et al. 1993; Froster-Iskenius et al. 1988; Herva et al. 1988; Lowry et al. 1985). In a study of 350 patients with various kinds of congenital contractures, 135 (38%) were found to have a specific syndrome termed amyoplasia (see discussion below); 80 patients (23 %) had mental or developmental retardation (11 of these had abnormal karyotypes, about half of them being chromosomal mosaics) (Reed et al. 1985); 11 patients (3%) had multiple limb pterygia (7 of which were instances of the autosomal recessive multiple pterygium syndrome) (Hall et al. 1982b),and 15 patients (4 %) had had a possible teratogenic exposure during fetal life (infection, maternal drug or toxin ingestion, chronic maternal illness, or direct physical insult) (Hall and Reed 1982). Regardless of the etiology, joint contractures are secondary to fetal akinesia, suggesting that function is an integral part of normal joint development. The clinical phenotype varies according to the underlying etiology, but some features, including equinovarus deformity of the foot, ulnar deviation of the hand, carpotarsal fusions, hip dislocation, patella malposition and dislocation, and scoliosis are common to all types (Hall 1985; Poznanski and La Rowe 1970).

A practical approach to the etiology of arthrogry-posis that is useful for estimation of the recurrence risk (including the empiric recurrent risk if a specific diagnosis cannot be reached) and natural history and for decisions on possible therapeutic strategies, consists in identifying children with limb involvement only, those with involvement of the limbs and other body areas (trunk, craniofacial or visceral), and those with involvement of the limbs in association with severe central nervous system dysfunction (Hall 1984,1989). Examples of the first group (limb involvement only) include familial camptodactyly, amyo-plasia, trismus-pseudocamptodactyly syndrome, and distal arthrogryposis. Camptodactyly, a peculiar type of localized joint contracture involving the proximal interphalangeal joints of the fingers, is discussed in Chapter 6. Amyoplasia (OMIM 108110) is a sporadic disorder characterized by the absence of limb muscles and their replacement by fibrous and fatty tissue. This is the condition usually meant when the term 'arthrogryposis multiplex congenita' is used. At birth, limb positioning is typical: internal rotation of the shoulders, extension of elbows, and flexion of the hands at the wrists. Severe equinovarus deformities

Joint Contractures

Fig. 8.4. Arthrogryposis, distal type I in a 4 1/2-year-old boy. Note clenched hands with medially overlapping fingers and ulnar deviation of the fingers. Flexion deformities and contractures similar to those in the hands were evident in the feet (not shown). No other skeletal or visceral anomalies were present

Fig. 8.4. Arthrogryposis, distal type I in a 4 1/2-year-old boy. Note clenched hands with medially overlapping fingers and ulnar deviation of the fingers. Flexion deformities and contractures similar to those in the hands were evident in the feet (not shown). No other skeletal or visceral anomalies were present of the feet and contractures at knees and hips are usually present. The face is typically round, with a frontal midline capillary hemangioma and slightly small jaw. Intelligence is normal. Symmetrical limb involvement (four limbs, 63 %; lower limbs, 24 %; upper limbs, 13%) and absence of other major malformations are typical (Hall et al. 1983a). Radiographic manifestations include gracile bones, fibular hy-poplasia, scoliosis, dislocation of hip and patella (Fig. 8.3 a,b). Identical twins are differently affected (Hall et al. 1983b). 'Arthrogryposis multiplex congenita, distal type,' is a designation for congenital contractures with major involvement of the hands and feet. Arthrogryposis, distal type I (OMIM 108120), a condition of autosomal dominant inheritance with variable expression, manifests at birth with tightly clenched fists with medially overlapping fingers, ulnar deviation, and positional foot deformities (Fig. 8.4). Contractures at other major joints are variable. Intelligence is normal, and there are no associated visceral anomalies. Camptodactyly replaces clenched fists in adult life (Hall et al. 1982a). Arthrogryposis, distal type II (OMIM 108130) occurs in various combinations and patterns with other defects, including fused cervical vertebrae, webbed neck, kyphoscoliosis, congenital hip dislocation, cleft lip and palate, micrognathia, ptosis, trismus, a unique hand position, dull normal intelligence, and short stature (Hall et al. 1982a; Reiss and Sheffield 1986; Kawira and Bender 1985). Although the pathogenesis of these disorders remains obscure, abnormal tendon attachments have been implicated (Hall et al. 1982a).

Examples of the second group (involvement of limbs plus other body areas) include congenital con-tractural arachnodactyly, multiple pterygium syndrome, and Schwartz-Jampel syndrome. Congenital contracture arachnodactyly (Beals syndrome, OMIM 121050) is phenotypically similar to the Marfan syndrome, with arachnodactyly, dolichostenomelia, progressive kyphoscoliosis, abnormal ears (resembling cabbage leaves), patellar dislocation, and congenital contractures of both hands. With increasing age, the clenched hands of the newborn improve, turning into camptodactyly. Contractures of other joints, especially of elbows, are present to varying degrees. A difference from Marfan syndrome is that the aorta and the eyes are not affected. Mutations occurring in two structurally related genes encoding large fibrillin proteins, the FBN1 gene located at 15q15-21.3 and the FBN2 gene located at 5q23-31, cause the Marfan syndrome and the congenital contracture arachnodactyly, respectively (Lee et al. 1991; Putnam et al. 1995; Babcock et al. 1998). The autosomal recessive multiple pterygium syndrome (Escobar syndrome, OMIM 265000) features multiple pterygia, campto-dactyly and syndactyly. Pterygia occur in the neck, axilla, elbow, popliteal fossa, fingers, and intercrural areas. Affected patients are short, with a characteristic facies (down-slanting palpebral fissures, ptosis of eyelids, hypertelorism, epicanthal folds, microg-nathia, down-turned corners of the mouth, sad expression, low-set ears). Additional features include talipes equinovarus and/or rocker-bottom feet, genital anomalies (cryptorchidism, absence of labia majora), and musculoskeletal anomalies (multiple flexion contractures, scoliosis, kyphosis, vertebral fusions, rib anomalies, absent patella). Occasionally, radial head and hip dislocation, diaphragmatic hernia, and cardiac defects are also present. Intelligence is normal (Hall et al. 1982b; Escobar et al. 1978). Schwartz-Jampel syndrome (chondrodystrophia my-otonica, OMIM 255800), also of autosomal recessive inheritance, is characterized by myotonia, blepharo-phimosis, and joint contractures. A primary muscle disorder with hypotonia is possibly responsible for most of the clinical features. In fact, early diagnosis and treatment with carbamazepine can resolve my-otonia and prevent the development of the classic clinical picture. Manifestations of the disorder include short stature, expressionless fixed face, pursed lips, narrowed palpebral fissures, small mandible, myopia, spinal malalignment, pectoral deformity, ac-etabular dysplasia, and bowed long bones (Schwartz and Jampel 1962; Squires and Prangley 1996). Mental retardation is present in 25% of cases. The disease course is one of progressive muscle weakness and joint contractures reaching a plateau in mid-childhood.

Examples of the third group of arthrogrypotic disorders (limb involvement plus central nervous system problems) are the Marden-Walker syndrome and the Pena-Shokeir syndrome. Clinical manifestations in Marden-Walker syndrome (OMIM 248700), an autosomal recessive disorder, include fixed facial expression, blepharophimosis, and joint contractures. Central nervous system defects include agenesis of corpus callosum, cerebellar hypoplasia, brain stem hypoplasia, hydrocephalus, and Dandy-Walker malformation. Micrognathia, decreased muscle mass with hypotonia, microcephaly, and mental retardation are also part of the syndromic spectrum. Death within the first months of life is relatively common, occurring as a secondary event of aspiration, sepsis, or cardiac failure (Marden and Walker 1966). 'Pena-Shokeir' is often used as an aspecific label for a clinical phenotype caused by decreased intrauterine movement, regardless of the specific cause. Therefore, the designations 'Pena-Shokeir phenotype' and 'fetal akinesia/hypokinesia sequence' may be used interchangeably (Hall 1986). The Pena-Shokeir phenotype occurs in a group of etiologically heterogeneous disorders. When fully expressed, this pheno-type is characterized by polyhydramnios, intrauter-ine growth retardation, pulmonary hypoplasia, craniofacial and limb anomalies, multiple congenital contractures, short umbilical cord, and lethality (Herva et al. 1985). Polyhydramnios is the result of failure of normal deglutition, lung hypoplasia, or deficient function of the diaphragm and intercostal muscles. The short umbilical cord and the multiple joint contractures are caused by the absence of fetal movements. Hence, overlap with arthrogryposis multiplex congenita is recognized. The unusual facies and lethality in Pena-Shokeir allow the differential diagnosis. Furthermore, interphalangeal subluxation has been reported as a potentially specific sign of Pena-Shokeir (Houston and Shokeir 1981). Overlap is also recognized between the Pena-Shokeir phe-notype and trisomy 18 (Jones 1997).

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