Wednesday 3rd March [DMD, CF, scleroderma, Parry Romberg] Flashcards
What age does muscle weakness usually occur in DMD?
Age 4
What age are children usually unable to stand by in DMD?
Age 12
Causes of DMD
X-linked recessive
Dx test of DMD?
Genetic testing
Average life expectancy of DMD
26
Main types of JIA
Oligoarthritis [persistent vs extended] if 1-4 joints
- polyarthritis [RF positive, RF negative] if 5 or over joints
- systemic onset
- enthesitis-related arthritis
- psoriatic arthritis
- undifferentiated
Ix done in JIA [what do they rule out?]
Hb: anaemia of chronic disease
WCC: leucocytosis
Platelets: thrombocytosis
ESR: usually raised
CRP: often normal/can be raised
U+E/LFT: normal in JIA
ANA: positive or negative
RF: positive or negative
If positive ANA, what can you exclude?
Uveitis
DDx for a swollen joint
A - acute septic arthritis R - reactive: to infection T - trauma H - haematological [haemophilia/leukemia] R - rheumatological: JIA/dermatomyositis/lupus I - immunological: HSP T - tuberculosis I - inflammatory bowel diseases S - sarcoidosis
What is sarcoidosis? Where does it commonly effect?
Disease involving abnormla collections of inflammatory cells that form granulomata. Disease usually begins in the lungs, skin, lymph nodes. Less commonly, eyes, liver, heart, brain can be effected. Any organ though can be effected.
Sx of sarcoidosis
Lungs: wheezing, cough, SOB, chest pain
Skin: lumps, ulcers, discoloured skin
Children: weight loss, bone pain, feeling tired.
What to do if suspect child has leukemia?
Do a blood film and bone marrow biopsy. Blood film will show blast cells.
Why may affected muscle sin DMD look larger?
Due to increased fat content
Common skeletal feature of someone with DMD?
Scoliosis
Name common anaesthesia
Local [-caine]
- ester based: procaine, benzocaine, amethocaine [unstable in soluation, fast-acting, rapidly metabolised. Can cause allergic reactions.]
- amide based: lidocaine, prilocaine, bupivicaine [generally heat-stable, long shelf life, slower half-life]
General
- inhaled: nitrous oxide, deslurane, isoflurane etc,
- IV agents: barbiturates, benzos, ketamine, propofol, opoids [alfentanil, fentanyl, diamorphine]
- muscle relaxants
Who might have a mild presentation of DMD?
Female who have a single copy of the defective gene
How is DMD inherited?
X-linked recessive; 2/3rds from mother, 1/3rd from a new mutation
Which gene mutates in DMD?
Mutation in the gene for the protein dystrophin
What will be high in a patients blood if they are tested in DMD?
Creatine kinase
Tx for DMD
No cure, physical therapy, braces, corrective surgery may help though. Assisted ventilation those with problems breathing.
Steroids slow muscle degenration, anticonvulsants control seizures, immunosuppressants to delay damage muscle cells.
Common is DMD? In boys and girls.
affects about 1 in 3,500/6,000 males at birth. Most common type of muscular dystrophy.
In girls, occurs in approx. 1 in 50m
Average life expectancy in DMD?
To 26 y/o, though with excellent care may go on to live to 30/40s.
What is Parry-Romberg syndrome?
Rare disease characterised by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face [hemifacial atrophy] but occasionally extending to other parts of the body
Which type of mechanism is present in Parry-Romberg?
Autoimmune mechanism is suspected, and the syndrome may be a variant of the localised scleroderma, but the precie cause and pathogenesis of this acquired disorder remains unknwonw.
