Musculoskeletal Disorders

Question 1

Osteogenesis Imperfecta, OI (DX)

Answer 1

• a congenital anomaly
• also known as “brittle bone”
• minor trauma can cause fractures; repeated fractures may lead to misshapen limbs and underdeveloped musculature
• condition ranges from mild to severe (fatal) but most people have mild form (fetal OI is most severe, fxs occur in utero, high mortality rate; infantile OI is moderately severe, many fxs in early childhood, severe limb deformities and growth disturbances; juvenile OI is least severe, fxs begin in late childhood, by puberty there are fewer fxs due to bone hardening)
• kids can be expected to develop progressive deformities

Question 2

Osteogenesis Imperfecta, OI (OT)

Answer 2

• addressing activity patterns/participation (often impacted by caution and time spent in casts/recovery)
• maternal education about handling and positioning (to prevent fxs)
• encourage monitored activity that promotes weight-bearing

Question 3

Marfan’s Syndrome / Arachondactyly (DX)

Answer 3

• a congenital anomaly
• characterized by excessive growth at the epiphyseal plates
• kids tend to have long/slender fingers, skull asymmetries, tall stature (may also have differences with eyes, joints, and heart)
• kids often have lax and hypermobile joints with poorly developed striated muscle
• common comorbidities: dislocation of the lenses, scoliosis, coxa vara, depressed sternum, stooped shoulders, fragile blood vessels
• kids may have delayed walking but otherwise tend to meet developmental milestones

Question 4

Achondroplasia / Chondrodystrophia / Dwarfism (DX)

Answer 4

• a congenital anomaly
• results in stunted epiphyseal plate growth and cartilage formation; may also be spontaneous mutations
• usually grow to 4 feet tall or less in height
• limbs of typical width but shorter length, typical trunks, pronounced forehead, small nose and jaw
• common comorbidities: lumbar lordosis, coxa vara, cubitus varas
• commonly experience back and leg pain (greater in adulthood)

Question 5

Arthrogryposis Multiplex Congenital (DX)

Answer 5

• a congenital anomaly
• characterized by an incomplete contracture (fibrous ankylosis) of many/all of the client’s joints, present ar birth
• often involves both the UE and LE
• present with stiff/spindly extremities as well as thickened elbow and knee joints
• may have underdeveloped musculature and in some cases may experience paralysis due to involvement of the spinal cord

Question 6

Arthrogryposis Multiplex Congenital (OT)

Answer 6

• increase and maintain ROM and strength via daily stretching programs, splinting, and serial casting
• increase functional participation in ADLs, IADLs, education, and play through the use of AE

Question 7

Congenital Clubfoot, Talipes Equinovarus (DX)

Answer 7

• a congenital anomaly
• clinically presents as unilateral or bilateral forefoot adduction and supination, heel varus, equinus of the ankle, and medial deviation of the foot
• affects more boys
• may have bony malformations and underdeveloped LE musculature
• can be corrected if treated early in childhood via taping, casting, splinting, and orthopedic surgery

Question 8

Congenital Clubhand (DX)

Answer 8

• a congenital anomaly
• clinically presents as partial or full absence of the radius and bowing of the ulnar shaft with absence or underdevelopment of the UE nerves and musculature
• less common than clubfoot
• hand often remains functional
• progressive casting, static or dynamic splinting, and surgery may be used for cosmetic reasons

Question 9

Developmental Dysplasia of the Hip / Congenital Hip Dislocation (DX)

Answer 9

• a congenital anomaly
• occurs bilaterally
• more common in girls
• genetic and environmental causes
• early diagnosis is critical (delay can lead to serious long-term disabilities)
• often detected via the Barlow test (examines whether clicking is present when the child’s leg is abducted and pressure is placed on the medial thigh)
• treatment in the first few weeks of life (via bracing, casting, or splinting)
• without early treatment, children will develop Trendelenberg’s sign (kid’s hip drops to the opposite side of the dislocation and the trunk shifts towards the disloacted hip when the kid is asked to stand on one foot)
• in severe cases, if not treated early, THR may be needed

Question 10

Polydactyly (DX)

Answer 10

• a limb deficiency/physical anomaly
• person has an excess of fingers or ties
• relatively common
• bony changes may be present or just extra soft tissue
• treatment: surgical amputation or reconstruction is often performed in early childhood

Question 11

Syndactyly (DX)

Answer 11

• a limb deficiency
• webbing occurs between the fingers or toes
• occurs frequently
• most common in the UE
• more common in boys
• treatment: splinting and scar reduction

Question 12

Bradydactyly (DX)

Answer 12

• a limb deficiency
• overly large digits
• may have difficulty with ADLs that require fine motor manipulation
• treatment: plastic surgery

Question 13

Microdactyly (DX)

Answer 13

• a limb deficiency
• overly small digits
• treatment: plastic surgery

Question 14

Amelia (DX)

Answer 14

• a limb deficiency
• the absence of a limb or distal segments of a limb
• phocomelia: a fully or partially formed distal extremity and absence of one or more proximal segments
• paraxial deficiencies: proximal segments of the limb are correctly developed, but either the medial or the lateral side of the rest of the limb is missing
• transverse hemimelia: amputation of a limb segment across the central are; both bilateral and hemilateral presentations are common