finsterer-_Opmaak 1 5/10/11 12:33 Pagina 563 Acta Orthop. Belg. , 2011, 77 , 563-582 REVIEW ARTICLE Orthopaedic abnormalities in primary myopathies Josef FiNStErEr , Walter StrOBl From Krankenanstalt Rudolfstiftung and Orthopaedic Hospital Speising, Vienna, Austria Orthopaedic abnormalities are frequently recognised Keywords : myopathy ; muscular dystrophy ; neuro - in patients with myopathy but are hardly systemati - muscular disorder ; orthopaedic disorders ; surgery. cally reviewed with regard to type of myopathy, type of orthopaedic problem, and orthopaedic manage - ment. this review aims to summarize recent findings and current knowledge about orthopaedic abnormal - List Of abbreviatiOns ities in these patients, their frequency, and possible therapeutic interventions. AMC Arthrogryposis multiplex congenita a MeDLine search for the combination of specific BMD Becker muscular dystrophy terms was carried out and appropriate articles CCD Central core disease were reviewed for the type of myopathy, types of CMD Congenital muscular dystrophy orthopaedic abnormalities, frequency of orthopaedic CMP Congenital myopathy abnormalities, and possible therapeutic interven - DHS Dropped head syndrome tions. DMD Duchenne muscular dystrophy Orthopaedic abnormalities in myopathies can be EDMD Emery-Dreifuss muscular dystrophy most simply classified according to the anatomical FHl1 Four-and-a-half Lin11, isl-1, Mec-3-domain 1 location into those of : the spine, including dropped gene head, camptocormia, scoliosis, hyperlordosis, hyper - FSH Facioscapulohumeral muscular dystrophy kyphosis, or rigid spine ; the thorax, including pectus lGMD limb girdle muscular dystrophy excavatum (cobbler’s chest), anterior/posterior flat - lMNA lamin A/C tening, or pectus carinatum (pigeon’s chest) ; the MD1 Myotonic dystrophy 1 limb girdles, including scapular winging and pelvic MD Muscular dystrophy deformities ; and the extremities, including con - MP Myopathy tractures, hyperlaxity of joints, and hand or foot MYH Myosin heavy chain deformities. these orthopaedic abnormalities can be NMDs Neuromuscular disorders most frequently found in arthrogryposis, muscular PVCr Posterior vertebral column resection dystrophies, congenital myopathies, myofibrillar myopathies, and myotonic dystrophies. Occasionally, they also occur in metabolic myopathies or other I Josef Finsterer, MD, PhD, Neurologist. types of myopathy. Most of the orthopaedic abnor - Krankenanstalt Rudolfstiftung, Vienna and Danube Univer - malities are sufficiently accessible to conservative or sity Krems, Vienna, Austria. surgical orthopaedic treatment. I Walter Strobl, MD, Orthopaedic Surgeon. Orthopaedic abnormalities have major implications Orthopaedic Hospital Speising, Vienna, Austria. in the management and outcome of myopathy Correspondence : Josef Finsterer, Postfach 20, 1180 Vienna, patients ; they should be closely monitored and treat - Austria. E-mail : [email protected] ed on time. © 2011, Acta Orthopædica Belgica. No benefits or funds were received in support of this study Acta Orthopædica Belgica, Vol. 77 - 5 - 2011 finsterer-_Opmaak 1 5/10/11 12:33 Pagina 564 564 J. FiNStErEr , W. StrOBl rYr1 ryanodine receptor 1 table i. — Orthopaedic problems in myopathies SEPN1 Selenoprotein 1 tPM tropomyosin Spine USS Universal spine system – Dropped head syndrome VC Vital capacity – Bent-spine syndrome (camptocormia) VCP Valosin-containing protein – Scoliosis – Hyperlordosis – Hyperkyphosis (gibbus) intrODUCtiOn – rigid spine Shoulder girdle though myopathies are per definition disorders – Scapula alata exclusively affecting the skeletal muscles, they fre - thorax (chest) quently cause secondary problems in other organs – Cobbler’s chest (pectus excavatum) or systems as well. this is particularly the case for – Anterior/posterior flattening of chest cavity – Pectus carinatum (pigeon’s chest) the cerebrum and the heart. in addition to these Pelvic deformities organs patients with myopathy frequently develop – Anterior/posterior tilt orthopaedic abnormalities and in single cases, such – Pelvic obliquity as arthrogryposis multiplex congenita (AMC, – Windblown (windswept) hip Extremities multiple joint contractures and talipes present at – Contractures of distal / proximal joints, small / large birth) or Escobar syndrome (multiple pterygium joints, spine (rigid spine) syndrome), the orthopaedic abnormality dominates – Joint hypermotility / hyperlaxity the phenotype (table i) (84,116 ). Since orthopaedic – luxation of joints, hips problems can substantially influence daily living, – Hand / foot deformities they are a major issue in the management of these – tip-toe, pes equinovarus (clubfoot, talipes), pes patients. the following review aims to summarize planovalgus the current knowledge and recent findings about orthopaedic abnormalities in patients with myopathies, their frequency in these patients and problems, frequency of orthopaedic problems, and possi - frequently utilized therapeutic interventions. ble therapeutic options in these patients. MetHODs resULts A MEDliNE search for the terms “spinal deformity”, “dropped head”, “camptocormia”, “bent spine”, “hyper - reviewing the papers selected according to the lordosis”, “hyperkyphosis”, “rigid spine”, “thoracic criteria mentioned above, it turned out that a num - deformity”, “pectus excavatum” (“cobbler’s chest”), ber of different orthopaedic abnormalities occur in “pectus carinatum” (“pigeon’s chest”), “scapula alata”, patients with myopathies. Generally, a mobility “scapular winging”, “winging scapula”, “scapulopexy” unit, such as a joint or the intervertebral discs, may (fixation of the scapula to the thorax), “scapulothoracic undergo pathological alterations, which lead to arthrodesis” (fixation of the shoulder blade to the complete immobility of the unit, decreased motility, thoracic wall), “pelvic obliquity”, “pelvic tilt”, “wind - or hypermotility. these changes most frequently blown hip”, “windswept hip”, “contracture”, “contrac - include irregular positioning or dislocation of the tures”, “genu recurvatum”, “genu valgus”, “genu varus”, combined elements. rarely, there may be deformi - “tip-toe walking”, “joint laxity”, “pes varus”, “pes val - ties, which are not accompanied by impaired motil - gus”, “pes cavus”, “pes equinovarus”, “talipes”, “pes planovalgus”, “Achilles tendon contracture”, and ity of the affected joints. Accordingly, orthopaedic “arthrogryposis” in combination with “myopathy”, abnormalities in myopathies include : spinal abnor - “myopathies”, “neuromuscular disorder”, and “skeletal malities, such as dropped head syndrome (DHS), muscle” was carried out and appropriate articles camptocormia, scoliosis, hyperlordosis, hyper - reviewed for the type of myopathy, types of orthopaedic kyphosis, or rigid spine ; thoracic deformities or Acta Orthopædica Belgica, Vol. 77 - 5 - 2011 finsterer-_Opmaak 1 5/10/11 12:33 Pagina 565 OrtHOPAEDiC ABNOrMAlitiES iN PriMArY MYOPAtHiES 565 impaired mobility of the thorax, such as pectus table ii. — Myopathies associated with excavatum, pectus carinatum ; shoulder girdle or dropped head syndrome pelvic girdle abnormalities, such as scapular wing - Muscular dystrophies ing (scapula alata), anterior / posterior pelvic tilt, – FSH* pelvic obliquity or windblown (windswept) hip ; – laminopathy limb abnormalities, such as contractures of small or – CMD (lMNA) large joints with or without deformities of the Congenital myopathies limbs, hypermobility or hyperlaxity of joints with – Nemaline myopathy – Congenital myopathy or without habitual subluxation or luxation of Myotonic myopathies joints, or hand or foot deformities (table i). Most – Myotonic dystrophy type 1# deformities of the extremities result from a combi - – Myotonic dystrophy type 2# nation of muscle weakness and imbalance, and sur - Metabolic myopathies gical procedures aim at correcting these deformities – Mitochondrial myopathy* – Acid maltase deficiency (Pompe) and rebalancing existing musculature by release or Unclassified myopathies transfer (4). – isolated cervical myopathy * : variable childhood or adult onset, # : predominantly adult spine onset. Dropped head syndrome DHS, also known as cervical kyphosis or floppy has been described so far are listed in table ii. head syndrome, is characterized by the inability of therapeutic approaches for DHS in primary the patient to voluntarily lift his head from the chin- myopathies include physiotherapy, neck extension on-chest position into the upright position due to orthoses, analgetics, or surgical stabilisation of weakness of the head extensor muscles. Weakness the cervical spine in selected cases. the latter may of these muscles may be complete or incomplete, be carried out by instrumented, posterior, cervico- allowing at least a limited head lift. Dropping of the thoracic spinal fusion (37 ). head may either go along with neck pain or may be painless. DHS was initially described in myasthenia Bent spine syndrome (camptocormia) gravis and motor neuron disease. Before the head Camptocormia, also known as bent spine drop can be attributed to a primary muscle disease, syndrome or progressive lumbar kyphosis, is an a number of differentials, including secondary acquired postural abnormality with forward-flexed muscle disorders and central nervous system (CNS) posture, leading to prominent lumbar kyphosis. disease have to be excluded. Secondary muscle Camptocormia usually increases when the patient disorders, which need to be considered in paediatric gets up or walks (5,21 ). Occasionally,