Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Musculoskeletal > Children's Congenital and Neuromuscular Conditions > Flashcards

Children's Congenital and Neuromuscular Conditions Flashcards

1
Q

What are some examples of congenital conditions?

A

Clubfoot (CTEV), rocker bottom feet (CTV), neurofibromatosis, skeletal dysplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are some examples of neuromuscular conditions?

A

Cerebral palsy, tip toe walking, Duchenne muscular dystrophy, high arch (cavus) foot

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the clinical name for clubfoot?

A

Congenital talipes equinovarus (CTEV)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is clubfoot?

A

Birth defect causing abnormal foot posture = majority idiopathic, associated with myelomeningocoele, diastrophic dwarfism and tibial hemimelia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are some features of clubfoot?

A

2:1 male to female ratio, half of cases are bilateral, causes cavus, adductus, varus and equinus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What causes the postural talipes which occurs in clubfoot?

A

Ankle muscle tightness and the position of the baby in the womb

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

How is clubfoot treated?

A

Ponesti method = child wears corrective cast to move foot into correct position, may also get Achilles tenotomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is the clinical name for rocker bottom foot?

A

Congenital vertical talus (CTV)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are some features of rocker bottom foot?

A

Irreducible dislocation of talus on navicular, round plantar surface, equinus hindfoot

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are some associations of rocker bottom foot?

A

Myelomeningocoele, arthrogryposis, spinal muscular atrophy, neurofibromatosis, trisomies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What kind of ankle disorder are clubfoot and rocker bottom foot?

A

Fixed ankle equinus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is neurofibromatosis?

A

Congenital disorder affecting extremities, spine (scoliosis >10%) and skin (neurofibromas)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What genes are involved in neurofibromatosis?

A

NF1 is most common = neurofibromin, chromosome 17

AD gene = Alzheimer’s disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is needed to diagnose neurofibromatosis as per the NIH guidelines?

A 
2 out of 7 of the following:
>6 café au lait spots
>= neurofibromas/plexiform neurofibromas
Freckling axilla/inguinal region
Optic glioma
Cortical thinning/pseudoarthrosis
Fist degree relative affected
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are skeletal dysplasias?

A

Congenital disorders involving the bone and cartilage (436 disorders e.g achondroplasia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are some features of skeletal dysplasia?

A

Shortening of bone, short stature (usually < 2SD), changes may be proportionate or disproportionate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

How are skeletal dysplasias characterised using the Wynne-Davies classification?

A

According to area of bone affected or pathology

18
Q

What receptor is involved in achondroplasia?

A

Fibroblast growth factor receptor 3 (FGFR3) = AD gene can be involved, 80% are spontaneous mutations

19
Q

What are some features of achondroplasia?

A

Normal trunk and short limbs, frontal bossing, genu varum, normal intelligence, motor delay

20
Q

What is cerebral palsy?

A

Non-progressive neuromuscular disorder = injury to immature brain (prematurity, perinatal infection/anoxic injuries/meningitis)

21
Q

What are the features of cerebral palsy?

A

UMN disease causing muscle weakness/spasticity
Early disease = abnormal muscle forces causing dynamic deformity
Late disease = contractures, fixed deformity, dislocation

22
Q

What are the different classifications of cerebral palsy?

A 
Hemiplegia = regional involvement, pyramidal, spastic
Diplegia = regional involvement, spastic, pyramidal
Quadriplegia = global involvement, spastic, pyramidal
Athetoid = extrapyramidal, dyskinetic, global involvement
Dystonic = global involvement, dyskinetic, extrapyramidal
Ataxic = extrapyramidal, ataxia, global involvement
23
Q

What is the clasp knife reflex that occurs in cerebral palsy?

A

Golgi tendon reflex, rapid decrease in resistance when attempting to flex a joint

24
Q

What are the functional classifications of cerebral palsy?

A 
Walking = GMFCS level I to III
Non-walking = GMFCS level IV to V
25
Q

What are some features of Duchenne muscular dystrophy?

A

Commonest muscular dystrophy, inherited disorder causing progressive muscle weakness, presents in children ages 2-5, muscle weakness (proximal>distal), clumsy walking, positive Gower’s sign, scoliosis

26
Q

What causes Duchenne muscular dystrophy?

A

Absence of dystrophin protein causes muscle replacement with fibrofatty tissue = 1/3 cases are spontaneous, usually X-linked recessive inheritance in boys

27
Q

How is Duchenne muscular dystrophy diagnosed and treated?

A 
Diagnosis = CPK, muscle biopsy (absence of dystrophin)
Treatment = keep ambulatory, decrease contractures
28
Q

What is cavus foot?

A

Pes cavus = high arched foot

Elevated longitudinal arch and varus hindfoot

29
Q

What causes cavus foot?

A

Idiopathic or familial, most due to neurological disorder (polio, cerebral palsy, myelomeningocoele, SCI), Charcot Marie tooth (myelin protein 222)

30
Q

How is cavus foot assessed and managed?

A 
Assessment = x-rays, coleman block test
Management = conservative or surgery, soft tissue or bony (osteotomies)
31
Q

What does a high GMFCS classification of cerebral palsy increase the risk of?

A

Dislocation

32
Q

What are some features of spinal fusion surgery?

A

Given when Cobb angle > 45 degrees, T2 is fused to pelvis, major undertaking at tertiary spinal centre, usually given in early adolescents to protect respiratory function

33
Q

What does normal motion depend on?

A

Appropriate and adequate force acting via a rigid lever of appropriate length on a stable joint

34
Q

What provide the required force for motion during ambulation?

A

Muscles and ground reaction forces

35
Q

What provides the rigid lever arm for forces during ambulation?

A

The skeleton

36
Q

What are the priorities of normal gait?

A

Stability in stance, clearance in swing, pre-position of foot in terminal swing, adequate step length, conservation of energy

37
Q

What are some features of tip toe walking?

A

Usually occurs in children aged 3, causes may be CNS, PNS, muscular or idiopathic

38
Q

What are some features of growing pains?

A

Common, more common in females, usually bilateral, don’t cause a limp

39
Q

What are some red flags for leg pain?

A

Asymmetry, good localisation, short history, persisting limp, not thriving, pain worsening

40
Q

What are some features of anterior knee pain?

A

More common in females, adolescents, localised patellar tenderness, usually during squats or going down stairs, check hips, investigate with radiographs, treat with physio

Musculoskeletal (57 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions