muscular dystrophy

Question 1

what is duchennes muscular dystrophy?

what is the prognosis?

Answer 1

• x-linked recessive condition
• affects 1 in 3500 males
• confined to wheelchair by 12 and death by 20

Question 2

how might they present?

Answer 2

• motor delay
• inability to run, hop and jump
• increased falls
• speech delay
• FTT
• Fatigue

Question 3

what can be seen on examination?

Answer 3

• waddling lordotic gait
• calf hypertrophy
• weakness in limb girdles (GOWERS SIGN)
• sparing of facial, extra-ocular and bulbar muscles
• shoulders and arms held back awkwardly when walking
• big belly (no abdominal muscles)

Question 4

what investigations would you do?

Answer 4

• markedly raised creatinine (10-100x larger)
• EMG
• genetic analysis
• muscle biopsy

Question 5

how will you manage early stage DMD?

Answer 5

early stage:

• physiotherapy
• corticosteroids: may prolong walking by 24 months and help with cardiorespiratory function
• bit D, calcium and bisphosphonates

Question 6

how will you manage late stage DMD? (>11 years)

Answer 6

• help with mobility (electric wheelchair)
• orthotics or surgery for contractures and scoliosis
• cardiorespiratory support: NIV and cardiomyopathy screening
• support at school
• counselling
• respite care for family, palliative

Question 7

what is Beckers MD?

what is the main cause of death and how does it differ to Duchennes?

Answer 7

• same as DMD but clinical course is slower and milder
• also X linked recessive
• cardiomyopathy
• DMD is respiratory causes

Question 8

what is a myelomeningocele?

how do they present?

Answer 8

• open lesion with malformed and exposed spinal cord covered by meninges, most severe type
• severe neuro abnormalities of legs, bladder and anus
• hydrocephalus in 90%

Question 9

what is a meningocele?

what is spina bifida occulta? what can it lead to?

Answer 9

• spinal cord intact, exposed meninges which can rupture easily
• small defect covered with skin
• can lead to tethering, bladder and bowel and leg dysfunction

Question 10

what does spina bifida occulta look like?

what investigations might you do in pregnancy and what do they highlight?

Answer 10

• hypertrichosis
• asymmetrical gluteal cleft
• scoliosis
• AFP raised at week 16-18
• 18-20 week anomaly screening ultrasound