Multidisciplinary Clinics.

More than 400 acquired and genetic diseases are labeled as arthrogryposis. Because of their rarity and complexity coordinated patient management is often lacking. Multidisciplinary clinics are the ideal setting to provide coordinated and comprehensive care to patients with special needs. Two similar experiences of multidisciplinary clinics for the care of patients with arthrogryposis were reported at the Symposium on Arthrogryposis held in Saint Petersburg in September 2014. These clinics are organized to bring together professionals from several disciplines, with the aim to provide patient-centered, comprehensive clinical care, and reduce the burden of multiple medical appointments for the families.

Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years.

We describe two proof-of-concept trials of delayed non-operative therapy of multiple hand and wrist contractures in a woman with a severe expression of Freeman-Sheldon syndrome (FSS), at ages 24 and 28 years. Having presented as an infant to a university referral centre, passive correction was not accompanied by strengthening exercises, and correction was lost. FSS is described as a myopathic distal arthrogryposis; diagnosis requires the following: microstomia, whistling face appearance, H-shaped chin dimpling, nasolabial folds, and multiple hand and foot contractures. Spinal deformities, metabolic and gastroenterological problems, other craniofacial characteristics, and visual and auditory impairments, are frequent findings. To avoid possible FSS-associated complications of malignant hyperthermia and difficult intubation, and to reduce or eliminate need for surgery, we proceeded with passive manipulation without anaesthesia or sedation. We believe this is the first report of attempted non-operative correction of multiple hand and wrist contractures in an adult with FSS.

Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy.

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder associated with recurrent mononeuropathies following compression or trivial trauma. Reports on sciatic neuropathy as the presenting manifestation of HNPP are very scarce. We report on a 21-year-old previously healthy man who was admitted with sensorimotor deficits in his left leg. He had no history of preceding transient episodes of weakness or sensory loss. Clinical and electrophysiological examinations were consistent with sciatic neuropathy. Cerebrospinal fluid investigation and MRI of the nerve roots, plexus, and sciatic nerve did not indicate the underlying aetiology. When extended electrophysiological tests revealed multiple subclinical compression neuropathies in the upper limbs, HNPP was contemplated and eventually confirmed by genetic testing.

Proceso rehabilitador de artrogriposis múltiple congénita / Rehabilitating process of arthrogryposis multiplex congenital

Se presentó un caso de artrogriposis múltiple congénita, femenina, blanca, con un coeficiente intelectual de 90, con posible compromiso orgánico, de discreta dislalia, sin alteraciones visuales ni auditivas, colaboradora, comunicativa, sin dominio motriz, remitida al equipo rehabilitador por el Hospital Frank País de La Habana en 2004. El objetivo es valorar el resultado de los tratamientos sicoterapéutico y rehabilitador. Se describe todo el proceso de rehabilitación inicial contenido en la estrategia colectiva multidisciplinaria para la atención a la paciente, comenzando con terapias de apoyo sicológico integral, ejercicios respiratorios y entrenamiento familiar; 2 meses después de forma secuencial se utilizó una combinación de agentes físicos, termoterapia, masaje, electroterapia, y kinesiología, se produce un retroceso por dificultades en los flexores de la rodilla que motivó una segunda intervención. A los 4 meses sigue la estrategia rehabilitadora, que continúa en la actualidad con ganancia marcada en nivel de autoestima y autoconfianza en ella misma, para la realización de las actividades del tratamiento y de la vida diaria como lavarse la boca, peinarse, vestirse, deambular por la casa y comunicarse con vecinos, amigos y familiares; fortaleza de grupos musculares debilitados, movilizaciones con la ortesis con total grado de independencia del técnico y familiares, tanto en ida y regreso de los tramos trabajados, que primero fueron de 10 m, después se le aumentó a 15 m y así se realizaron aumentos progresivos en diferentes etapas hasta llegar a 50 m. Se concluyó que mejoró 80 por ciento con el tratamiento planificado, así como su calidad de vida y la reincorporación a la sociedad(AU)

A case of arthrogryposis multiplex congenital was presented. She was a white female patient with intellectual coefficient of 90, possible organic implication, discrete dyslalia, without visual or hearing alterations, cooperative, communicative, without motor control that was referred by Frank País Orthopaedic Hospital in Havana City in 2004. The objective is to assess the results of both rehabilitation and psychotherapy treatments. All initial rehabilitation process included in the multidisciplinary collective strategy for the patient's attention was described, beginning with comprehensive psychological support therapies, respiratory exercises and family training. Two months later, in a sequential form, a combination of physical agents, thermotherapy, massage, electrotherapy and kinesiology was used. There was a relapse due to difficulties in the knee flexors that led to a second surgical procedure. Four months later, a strategy for rehabilitating the patient began which continued to the present time with a marked enhance of self-esteem level and self- confidence to follow both treatment and daily life activities such as to brush her teeth, to comb her hair, to get dressed, to wander around the house and to communicate with neighbours, friends and relatives. Also, there was strength in the debilitated muscle groups and mobilizations with orthosis with total degree of independence from technicians and family members when going back and forth in the sections worked which corresponded to 10 m at the beginning and were increased later to 15 m, accomplishing progressive increases in different stages to finally reach 50 m. It is concluded that the patient's condition improved an 80 percent with the treatment, as well as her quality of life and her return to society(AU)

[Musculoskeletal treatment of a 11-year-old patient with arthrogryposis]. / Muskuloskeletal behandling af 11-årig med artrogrypose.

A two-year-old patient was diagnosed with arthrogryposis because of inflected knees (15-20 degrees) and stiff hamstrings. All joints and reflexes were normal. Activities were described as age-appropriate, but the patient walked with inflected knees and increased lumbal lordosis. Physiotherapy and botox did not improve the condition. Because of pain and hampered activities, the patient - now aged 11 years - was treated with musculoskeletal medicine. After treatment the patient could walk normally without pain and stand with stretched knees.

Correction of arthrogrypotic clubfoot with a modified Ponseti technique.

Surgical releases for arthrogrypotic clubfeet have high recurrence rates, require further surgery, and result in short, painful feet. We asked whether a modified Ponseti technique could achieve plantigrade, braceable feet. Ten patients (mean age, 16.2 months; range, 3-40 months), with 19 arthrogrypotic clubfeet, underwent an initial percutaneous Achilles tenotomy to unlock the calcaneus from the posterior tibia followed by weekly Ponseti-style casts. A second percutaneous Achilles tenotomy was performed in 53%. Mean number of casts was 7.7 (range, 4-12). From pretreatment to completion of initial series of casts, mean scores of Dimeglio et al. improved from 16 to 5 (ranges, 12-18 and 2-9, respectively), Catterall scores (as modified by Pirani and colleagues) from 4.8 to 0.9 (ranges, 1.5-6.0 and 0.0-2.0), and maximum passive dorsiflexion from -45 degrees (range, -75 degrees to -20 degrees ) to 10 degrees (range, 0 degrees to 40 degrees ). Ankle-foot orthoses maintained correction. At the minimum followup of 13 months (mean, 38.5 months; range, 13-70 months), the mean maximum dorsiflexion was 5 degrees (range, -20 degrees to 20 degrees ), two patients had posterior releases and no patient's ambulatory ability was compromised by foot shape. Arthrogrypotic clubfeet can be corrected without extensive surgery during infancy or early childhood. Limited surgery may be required as the children age.

Comprehensive management of arthrogryposis multiplex congenita.

Arthrogryposis multiplex congenita syndrome, characterized by multiple congenital joint contractures, is a manifestation of a neurogenic or myopathic disorder of unknown etiology. An accurate diagnosis is critical in management strategy. Muscle biopsy is usually the most important diagnostic procedure. Once the diagnosis is established, a team approach to comprehensive care is instituted, and the child is assisted in achieving maximum cognitive, physical, and social development. Physicians, nurse clinicians, therapists, social workers, and others constitute the team and work in coordination to develop an individual habilitation plan. The treatment plan is continually updated and modified as needed. Because the musculoskeletal deformities are generally the most prominent abnormality, the orthopedist usually has the major role in management. The orthopedist may serve as coordinator of the comprehensive care team and therefore must have a fundamental understanding of and global approach to management.