Tuesday, 10 December 2013

Charcot-Marie-Tooth disease

MC inherited neurological disorder
1886 described together
Professor Jean Martin Charcot and his student Pierre Marie – Peroneal Muscular Atrophy
Howard Henry Tooth – Peroneal Progressive Muscular Atrophy. Attributed it correctly to neuropathy.
1912 Hoffman described peroneal muscular atrophy with thickened nerve; Hoffman’s disease.

Hereditary Sensory and Motor Neuropathy type I, II and III (Dejerine-Sotta’s disease)

Classification
Type 1
Demyelinating;
further subdivided A (MC, 70%), B & C.
Autosomal dominant
Type 2
Axonal degeneration;
Autosomal dominant or recessive
Type C
Intermediate between axonal degeneration and demyelinating
Autosomal dominant



Clinical Features

Incidence of all types of CMT varies from 1 in 5000 to 1 in 2500
Presents with
Progressive weakness and atrophy of distal muscles
Depressed DTRs
Slowed nerve conduction velocities
Family h/o similar disease
Varied age of onset
Most commonly onset at the 2nd decade of life
CMT Type 2 onset 3rd decade of life
Normal motor milestone
Incidence equal in both sexes, severity more in boys with CMTX

Physical signs

Diminished to absent DTRs
Ankle jerk lost before knee jerk
Sensory loss
2/3rd of the patients
More common in CMT 1 than CMT 2
Muscular weakness
Varied involvement of muscle
MC muscles involved are tibialis anterior and peroneus brevis. May involve all the muscles of the calf
Most severe form – generalized muscle weakness → inability to walk
Atrophy of calf muscles → stork leg appearance
Gait changes
Early stages – slight foot drop seen only in swing phase
Progressively develop complete plantigrade foot with hyperflexion of knee then hip and elevation of hemipelvis
Steppage gait
Foot deformity
Pes cavus, pes cavovarus or claw toe
Hands show atrophy of intrinsic muscles
Progressive scoliosis of spine seen in adolescent and teens
Sensorineural deafness maybe seen in CMTX.

Investigations

Blood tests – known mutations
EMG-NCV
Demyelinating: decrease in velocity with amplitude same as normal
Axonal degeneration: same velocity with decrease amplitude
EMG shows fibrillation due to denervation
Nerve Biopsy
Sural nerve is used
Demyelinating – Onion Bulb appearance
Type 2 – Axonal degeneration
Muscle biopsy – atrophic muscles
MRI Spine
Diffuse enlargement of cauda equina, nerve roots and ganglia
Sonography
Enlargement of median nerve
Medical management
No medical treatment to slow or stop the disease
71% of the patients present with severe neuropathic pain requiring medications

Orthopaedic manifestations

Foot
MC manifestation is pes cavovarus
Atrophy due to denervation of the intrinsic muscles → contractures → elevation of the medial longitudinal arch because of the contracture of plantar fascia
Plantar flexion of the first ray and forefoot equinus → varus of the hind foot
Claw toes – absent intrinsic muscles

Radiographs

Meary’s angle
Angle between the longitudinal axis of talus and the 1st metatarsal
Normal 0-5°
Coleman’s block test
Patient made to stand on a block of wood with the 1st metatarsal head falling off the block
Supple hind foot varus – corrects
Fixed varus – does not correct
Surgical management
Olney divided surgical management into two components
Deformity correction
Soft tissue release
Plantar fascia release
Capsulotomies
Bony fusions or osteotomies
1st metatarsal osteotomy
Calcaneal osteotomy
Triple arthrodesis
Rebalancing of muscle forces
Tendon transfers
Dorsiflexion weakness – EDL or posterior tibial transfer
Overpowering peroneus longus – transfer to peroneus brevis
Hindfoot equinus – tendoachilles lengthening
Claw toes
Paralyses and contracture of intrinsic muscles
Toe extensors recruited to dorsiflex ankle
Jones transfer of the long extensors to the metatarsal to help ankle dorsiflexion
Fusion of IP joint of great toe and PIP joint of the other toes
Hip
Dysplasia of hip
Subtle weakness of the proximal musculature → progressive dysplasia of hip
Asymptomatic till adolescent
Treatment similar to idiopathic adolescent dysplasia of hip

Spine
Scoliosis seen in 37%
Similar to idiopathic scoliosis with increased kyphosis
Highest risk in girls & CMT 1
May present with hyperkyphosis without scoliosis

Treatment

Orthosis
Posterior spinal fusion – failure of orthotic management and with progressive curves
Hand
Onset of hand symptoms occur in 1st to 3rd decade of life; 8 years after the appearance of lower limb symptoms
Present with intrinsic muscle weakness with clawing of ring and small digits occur.
Involvement of ulnar and median nerve innervated forearm and intrinsic muscles
Sparing of radial nerve innervated muscles
Functional problems:
Loss of opposition
Loss of side to side pinch
Clawing of fingers

Management

Electrodiagnostic studies done to determine the best muscle for tendon transfer
Transfers without pulley or if required with static pulley preferred to tendon or tendon loop pulley
Opponensplasty – extensor carpi ulnaris or extensor indicisproprius
Side to side pinch – extensor pollicis brevis, abductor pollicislongus or extensor indicis to 1st dorsal interosseous or adductor pollicis
Muscle transfer done in flexion of MCP joints to compensate extrinsic extensors
Delayed till age when patient can understand the limitations and aftercare
The disease and deformity can be progressive
Transfer requires protection from excessive abuse
Dejerine-Sottas Disease
(Hypertrophic Interstitial Neuritis)
Severe, infantile-onset demyelinating polyneuropathy
Related to same gene as CMT 1A
Enlarged peripheral nerves – proliferation of perineural and endoneural tissues
Classical onion bulb appearance
Presenting complaint
Disability of gait under 3 years of age
Floppy muscles, thickened nerves.
Severe cases present with respiratory failure at birth.
Similar findings as CMT with increased severity and earlier age of onset.
No treatment
Steroids can be given in severe cases.

Friday, 26 July 2013

Tuesday, 23 July 2013

Rheumatoid Arthritis Medical treatment

RHEUMATOID ARTHRITIS

It is a chronic inflammatory systemic disease of young or middle aged adult
chatact by – destructive & proliferative changes in the synovial membrane
periarticular structure, skeletak muscle& perineural sheath.
Eventually joints are deformed and ankylosed

Etilogy –

Exact cause unknown
Theories
(1) Infection – haemolytic /nonhaemolytic streptococci have been isolated from
joint & regional lymph node
(2) Endocinal - suggested by response to adrenocortical steroid
(3) Allergies – exhibit various allergic manifestations. Eosinophilia +
(4) Metabolic
(5) Immune overactivity –
- +nt of antibody immunoglobulin – RA factor
- Infilteration of synivial tissue by immunologically competent cells eg
plasma cell , lymphocytes
- +nt of Ag-Ab complexes with leucocytesbin synivialfluid & blood
- Lowered complement level in synovial fluid
(6) Genetic factors – tendancy for aggregating in family
(7) Vascular changes – alteration of peripheral vascular bed , perhaps by
autonomic influxes
Age – young & middle age ( mean age of onset – 40 years)
Sex – Women > Men (3 :1)



Pathogenesis –

Most widely accepted theory – immunological response in synovial tissue
Exogenous antigen (Ag)
↓ entry
Defender cell (WBC – T lymphocyte) + Ag
Transform in to ↓
Plasma cell

Ab + Ag → Ag-Ab complexes ← phagocytes engulf

Lysosomal enzyme releases (proteases)

Inflammation → destruction of tissues (synovium & cartilages)

Pannus – is a granulomatous mass that grows over & destroys cartilage, tendon,
ligament
Under electron microscope,the lining consist of thee types of synovial cells
Type A – phagocytic .Take up Ag-Ab complexes & particulate matter from
synovial fluids
Type B – resembles fibroblast & are belived to synthesis protein & hyaluronic acid
which are +nt in synivial effusion
Type C – Undifferentiated . can become type A or B
In response to human immunoglobulin IgG autoantibodies are synthesized in
rheumatoid synovial tissue (RA factor - RF). It not only reacts with human IgG but
also with IgG of no.of other anomal species making it feasible to test for RF with
sheep cells coated with rabbit IgG. Patient with high titer of Rf have a poor
prognosis.
Standard test for RF determines - only IgM RF (most rapidly measured)
Elevated RF seen in
- RA
- SLE
- Scleroderma
- Polymyositis & dermatomyositis
- Sarcoidosis
- Chronic bacterial endocarditis
- TB
- Chronic hepatitis
- S’jogren syndrome
- Haemochromatosis
- Haemophilic arthritis



Medical management –

• Disease suppressing drugs
• Disease midifying drugs
• Immunosuppressant
(A) Disease suppressing drugs
1. Salicyclates –
Eg – acetylsalicyclate (Aspirin) ,Mg salicayclate, Mg choline
Antiinflammatory ,antipyretic & analgesics
Serum salicyclates level should be monitored. Non therapeutics anti-inflammatory
level are 20-30 mg/dl
Metabolized in Liver & excreted by kidney
C/I – Asthama (Bronchoconstriction)
Bleeding tendencies (platelet inhibition)
Hyperurecemia (Urate retention)
Acute renal/hepatic failure
Side effect – GIT – dyspepsia, nausea,vomiting,occult bleed
CNS – titnitus ,deafness, convulsion
Hy50-75 mg bid/tdspersensitivity reaction
2. NSAID’s –
Reversible PG synthetase inhibitor - Antiinflammatory ,antipyretic & analgesics
Side effect – GI irritation, platelet inhibition, headache,dizziness, ARF,nephritic
syndrome, GN, Steven –Johnson syn,aplastic anaemia
Indomethacine – most potent NSAID Dose – 25 mg bid/tds , Max-150 mg/day
Diclofenac Na - 50-75 mg bid/tds ,Max – 200 mg/day
Ibuprofen – 400 mg tds/qid ,Max 3200 mg/day
Phenylbutazone – 100 mg tds
(B)Disease modifying agents
1.Gold salts –
More effective than NSAID’s
Retards progession of bony erosions & cartilage loss – alter natural course of RA
Reuires close clinical & lab monitoring
Used in Juvenile RA, Psoriatic arthritis, Felty’s syndrome
Indication – patient with acute synovitis who does not respond to conservative
management with NSAID, Sylicyclates
- patient with rapidly progressive erosive arthritis
Metabolism -

Friday, 19 July 2013

Back, Bladder and Bowel Care

Back, Bladder and Bowel Care


BACK CARE

Patients in Orthopedics are usually bed ridden so they have problems in proper bladder and bowel care. These makes them prone to development of pressure sores and poor function of bladder and bowel.
BACK CARE
Spinal injury patients especially with neurological deficit are more prone to develop various bladder and bowel dysfunctions, which affects their physical and mental wellbeing leading to poor recovery of functions.
Why back care???

  

PROLONGED BED RIDDEN
1Multiple fractures.
2Spinal injury with neurological involvement.
3Poor general condition.
4Secondary complication like muscle weakness, deformity and muscle contractures etc.
 Back care 
AIMS-
1.Avoid pressure sores.
2.To prevent secondary complication.
3.Maximize functional recovery.


The EPUAP Guide to Pressure Ulcer Grading

Pressure sore
     Found during autopsies on Egyptian mummies, pressure sores are an ancient medical problem.
The sites of occurrence include the
1.ischium (28%),
2.sacrum (17-27%),
3.trochanter (12-19%), and
4.heel (9-18%).
Pressure sore
HIGH RISK GROUP
1.Patients with fractures treated by conventional method like prolonged traction.
2.Elderly patients.
3.Patients with spinal cord injury.
Pressure sore - Management
Remove all clothing.
Use pressure relieving mattress ( Water bed, Air mattress)
Lift or log roll the body hourly
Examine skin for marking or damage
Posturing
Support injured spine in alignment
Maintains limbs and joints in functional position to avoid contractures.
In paraplegic patients sleeping in prone position with pillows bridging the bony prominences
Relieve pressure
Avoid wetting
Choice of bed
Stryker bed
Profiling bed with multiple layers of varying density foam
Dry
Wrinkle free
Skin Care
Examine and relieve pressure regularly
Keep clean
Avoid damage
Frequent posture change
Treat minor abrasions
Log Rolling
Needed for nursing care of paraplegic and quadriplegic patients.
Avoids further damage to spinal cord & detioriation of neurology.
Log rolling
Log rolling

BLADDER MANAGEMENNT

AIMS –
1.Preservation of renal function
2.Continence
3.Prevention of infection
4.Achieve fluid balance

Catheterization

TYPES
1.Indwelling catheterization.
2.Intermittent catheterization.
3.Condom catheterization.
4.Suprapubic catheterization.
Indwelling catheterization
Catheter is left in place
urethra / SPC
no touch technique under strict aseptic precaution.

Intermittent catheterization
Prereqisites:
1.Strict aseptic techniques.
2.Catheterize 6 hourly initially
3.Restrict fluids to 1500 ml/24 hrs
4.Culture regular urine samples and treat significant UTI

Disadvantages

Calculi
Weekly or biweekly bladder wash
Frequent blockages
Infection
periurethral abscess, urethral diverticulum, fistula formation and epididymoorchitis
Self Intermittent Catheterization
Optimum requirements
1.Absent or minimal detrusor activity
2.Large bladder capacity
3.Sufficient manual dextrity
4.Pain free cathterisation
5.Patient motivation
Condom Catheterisation
Used in spastic bladder which empties on its own leading to soiling of clothes.
Allergic reaction.
Negates disadvantage  of urethral catheterization.
Suprapubic Catheterization
Avoids urethral instrumentation and attendant problems.
Permits high fluid intake
No fluid restriction

Disadvantages :-
1.Catheter blockage.
2.Surgical site infection
3.Technical demanding
Long term prevention of UTI
High fluid intake
effective bladder training
urinary antiseptics
Biweekly catheter change
Regular bladder wash
Bowel Care
Stretching >>>signals to spinal cord>>
Reflexive emptying
OR
Stretching>>spinal cord>>brain>>
Voluntary emptying or holding


Why Bowel Care ?????

To prevent:-
Constipation
Hemorhoids
Malnutrition
Fluid imbalance
Bowel Care Program
1.Avoiding constipation.
2.Maintaining a good consistency in stool.
When feces becomes too dry and firm, more difficulty in emptying , allowing bacteria to remain in body for a longer period ,cause of infections and other problems.
Firm stool  irritates the colon and cause hemorrhoids
.

Bowels Management

Diet- a high rich fiber diet.
Avoid caffeine
laxatives, stool softeners
enemas
Manual removal of fecoliths
 Take Home Message
   Back, bladder and bowel care is a very important aspect in orthopedic patient care because these…
Have a profound impact on the overall recovery of the patient.
Hamper rehabilitation.
Lead to additional morbidity.