DMD long case Flashcards
Diagnosis
genetic mutation/how diagnosed
specific problems to elicit
- Functional Abilities (ADL - dressing, writing, toileting)
T
H
E
F GI problems (constipation, incontinence, GORD, vomiting)
I) difficulties with micturition/ constipation
B) scoliosis (progression and any planned surgeries)
S) joint contractures (AFOs. night splints)
P)
I) Schooling, intellect
B) behavioural/psychological problems (ADHD), OCD, anxiety, depression, aggression
S: Respiratory problems (sx of resp failures at later stage, sleep disordered breathing, non invasive ventilation)
Cardiac sx (arrythmias, sx of cardiac failure)
HEARTS
1. Mobility (long leg braces, wheelchair)
3. Home Mods (ramps, bathroom fittings, specialised beds and mattresses)
4. Transport need (van with hoist)
11. school (access problems, educational problems, help needed, attitudes of teacher)
specific questions re: DMD
- Initial diagnosis (when, where, presenting sx, clumsiness, muscle cramps, learning delay, cognitive impairment, global or gross motor developmental delay)
- time between sx and diagnosis
- what invx were undertaken
- stages of deterioration
- number of hospitalisations
- development of complications (scoliosis/cardiac failure)
- surgical procedures (e.g. release of contractures)
- commencement of steroids: timing, side effects
Social impacts
- Difficulties at school, poor job prospects, limitations on lifestyle, body image, self esteem, peer reaxtion
- impact on family (parental coping, difficutlies between mother and father, genetic implications for further children,
- financial considerations, such as cost of wheelchairs, home mods, transport, hospitalisations, private hwalth
- physical burden of heping children in and out of wheelchairs
- benefits recieved
- social supports (social worker, DMD family support group provided by muscular dystrophy association, visits to school by OT, and community liaison nurse from hospital muscle clinic to meet class and teachers.
Examination of DMD
- describe resting posture; or stnading posture if able.
interscapular muscle bulk, small proximal upper limb musculature, abnormal anterior axillary fold (atrophic sternal head of pectoralis major), lumbar lordosis, some internal rotation of the femurs 9due to muscle imbalance), small thighs with preservation of the vastus lateralis, but prominent calves (pseudohypertroiphy), and equinus deformity of the feet.
Respiratory status
Management priorities in DMD (general)
Multidisciplinary approach ensuring there is a neurologist, geneticist, respiratory physician, cardiologist, orthopaedic surgeon, physiotherapist, occupational therapist, orthotist, clinical nurse coordinator and social worker
My role as paediatrician is to
1) keep full contact with the team regarding changes in medical care, being able to coordinate overall medical care
2) dealing with any problem’s that arise between clinic visits, such as manageing intercurrent infections.
3) The general paediatrician should probably be the principle advisor/counsellor on this case, however this is seldom the case - this might be an issue.
Medical management of DMD
glucocorticoids can slow down the decrease in strength and function in DMD. Moderate doses are useful when boys are still walking, to improve motor function.
also delays progression of cardiomyopathy.
Prednisone is immunosuppressive, and also has direct effects on muscle cells. It can modulate proteolysis and calcium handling, increase myogenesis and inhibit apoptosis.
max dose in DMD should be 30-40mg per day for 2 years, and effect can be sustained for 2 years)
Steroid side effects?
growth: weight gain and reduced linear growth
2) Hypertension
3) cushingoid appearance
4) immune suppression
5) diabetes (secondary to sustained hyperglycaemia)
6) cataracts
7) osteoporosis + long bone compression fractures
8) mood dysregulation
9 easy bruising
how would you manage side effects in DMD, when this is the only medication that works?
dose reductions (down to 0.3mg/kg)
alternative dosing regimens or nighttime dosing may overcome these problems.
are there any alternatives to prednisolone ?
Deflazacort (a derivative of prednisolone); which enhances cardiac function and attenuates the development of scoliosis, including when ambulation is lost.)
what do I monitor when a child is on steroid therapy?
- assessing benefits (timed muscle function tests, PFTs; noting the age when independent walking is lost)
- Assessing risks: monitoring for SEs.
steroid should not be given up until other rergimens have been explores.
Ensuring patients have a medicalert bracelet -
Rehabilitation management goals and strategies?
the maintanance of muscle extensibility, and the avoidance of joint contractures, are achieved by stretching, guided by physiotherapist and occupational therapists.
Night splinting, using custom made Ankle Foot Orthoses, can assist control of contractures of the ankle.
powers wheelchairs with or without standing function are used once ambulation becomes untenable. resting hand splints may be needed for tight long flexors of the fingers.
what role does physio play in DMD
- encourage walking and avoid joint deformity
- stretches for contractures
- exercises for strength while muscles still strong enough
- chest physiotherapy for respiratory problems
- motivational breathing exercises
- negative pressure insufflation (cough assist)
What roles does OT play in DMD
- prescribing specifications for wheelchairs and equipment
- home visits and visits to school, for Q&A with teachers
- Advice re: aids to ADLS
- Aiding posture: avoidance of certain positions
- Ax and advice on installation of ramps for adequate mobility at home. Ax need for lifting machines (dependent on strength of caregiver at home), bathroom access