MSK (LL) Autoimmune, Metabolic, Iatrogenic, Congenital, Degenerative Flashcards
State the 4 common autoimmune conditions of the LL
- myasthenia gravis
- SLE
- RA
- Ankylosing spondylitis
- Psoriatic arthritis
State the features and complications of SLE (systemic lupus erythematosus)
SLE (SYSTEMIC LUPUS ERYTHEMATOSUS)
Features
- systemic (fever, fatigue, lymphadenopathy)
- mucocutaneous symptoms (malar rash sparing nasolabial folds, photosensitive lesons, sores, alopecia)
- arthralgia (joint pain that is migratory or symmetrical)
- cardiovascular symptoms (pericardiits, raynaud’s phenomenon, vasculitis, thromboembolic diseases)
- renal involvement - lupus nephritis
Complication - pleuritis, pneumonitis
State the investigations and management used for SLE (systemic lupus erythematosus)
SLE (SYSTEMIC LUPUS ERYTHEMATOSUS)
Investigations
- positive for anti-nuclear antibodies (ANA)
- positive for DsDNA
- positive for anti-smith
- positive for anti-RNP
Management
- avoid sun exposure and smoke
- anti-malarial therapy (hydroxycholorquine)
- corticosteroids (prednisolone)
- immunosuppressants (cyclosporine, azithioprine, methotrexate)
State the common causes of peripehral neuropathy
- DM
- B12 deficiency
- Guillain-barre syndrome
- Chronic idopathic demyelinating polyradiculoneuropathy (CIDP)
State the presentation of peripheral neuropathy
PERIPHERAL NEUROPATHY
Since peripheral neuropathy is usually a LMN problem –> leads to LMN symptoms
Presentation
- wasting and fasciculations
- hypotonia
- absent reflexes
- foot drop
- symptoms worse in the night –> sleep disturbances
- glove and stocking distribution
- numbness and weakness
State the causes and presentations of peripheral neuropathy
PERIPHERAL NEUROPATHY
Causes
- vitamin b12 deficiency
- guillain-barre syndrome
- DM
- chronic idiopathic demyelinating radiculoneuropathy (CIDP)
Presentation
- LMN symptoms - hypotonia, absent reflexes, wasting, fasciculations, foot drop
- glove and stocking distribution
- numbness and weakness
- symptoms worse at night –> sleep disturbances
State the 3 variations/presentation of guillain-barre syndrome
- affects nerve roots - descending paralysis
- miller fisher type - affects eyes
- bickerstaff - encephalitis
State the treatment for guillain-barre syndrome
IVIG + supportive treatment
State everything you know about guillain-barre syndrome
(causes, presentation, treatment)
GUILLAIN-BARRE SYNDROME
Causes
- campylobacter jejuni
Presentation
- glove and stocking distribution of numbness and weakness
- ascending paralysis
- affects repsiratory and heart tissues –> aphyxiation
- if miller fisher type –> affects eye
- if bickerstaff –> encephalitis
Treatment
- IVIG + supportive treatment
State the pathogenesis of vitamin b12 defiency
VITAMIN B12 DEFICIENCY
Pathogenesis
- gastrectomy or iliectomy (Intrinsic factor produced by parietal cells int he stomach bidns and preserves vitamin b12 for absorption in the terminal ileum)
- cholestyramine
- vegitarianism
- pernicuous anaemia (antibodies are produced aagainst parietal cells and intrinsic factor)
State the presentation and investigations of vitamin b12 deficiency
VITAMIN B12 DEFICIENCY
Presentation
- glove and stocking distribution of reduced sensation to light touch and vibration (DCML)
Investigation
- vitamin b12 measurement
State everything you know about vitamin b12 defiency
(causes, presentation, investigation, treatment)
VITAMIN B12 DEFICIENCY
Causes
- gastrectomy or iliectomy (intrinsic factors produced by parietal cells in the stomach binds and preserves vitamin B12 for absorption in terminal ileum)
- vegetarianism
- cholestyramine
- pernicous anaemia (Ab against parietal cells and intrinsic factors)
Presentation
- glove and stocking distribution of reduces sensation to light touch and vibration (DCML)
Investigation
- vitamin b12 measurement to confirm cause of peripheral neuropathy
Treatment
- mecobalamin B12
State the pathogenesis and clinical features of osteomalacia
OSTEOMALACIA
Pathogenesis
- defective bone mineralisation while bone density may still be normal
Presentation
- persistent bone pain, weakness and fatigue
- maintained muscle strength but reduced endurance during exercise and ROM limited by pain
State the investigation and treatment for osteomalacia.
OSTEOMALACIA
Investigation
- test for liver and kidney functions as both are involved in the activation of vitamin D
- pancreative enzymes (GGT, ALP) to test for pancreatitis which leads to malabsorption of vitamin D
Treatment
- vitamin D3 replacement therapy
- encouraging sun exposure
- anti-resorptive drugs + calcium supplement
State everything you know about osteomalacia
(pathogenesis, features, investigations, treatment)
OSTEOMALACIA
Pathogenesis
- defective bone mineralisation with no change in bone density
- due to vitamin D malabsorption or underproduction
Features
- persistent bone pain, weakness and fatigue
- maintained muscle strength but reduced endurance during exercise and ROM due to pain
Investigations
- liver and kidney test (involved in activation of vitamin D)
- pancreatic enzymes (GGT and ALP) to test for pancreatitis as it may lead to malabsorption of vitamin D
Treatment
- vitamin D3 replacement therapy
- encouraging sun exposure
- anti-resorptive drugs + calcium supplements
State the features of femoral artery pseudoaneurysm
- painful pulsatile mass at femoral triangle with bruit heard over area
- slight diminished popliteal and dorsal pedis pulse on affected limb
State the common visual deficit due to paget’s disease
monocular blindness - complete vision loss in one eye (optic N compression)
State the pathogenesis of hallux valgus.
HALLUX VALGUS
Pathogenesis
- deformation of the bones of the big toe leading to protrusion of the 1st metatarsal phalangeal joint
State the features and management of hallux valgus.
HALLUX VALGUS
Features
- tender prominence over the first MTPJ with no redness or swelling
- big toe deviated laterally
- exacerbated by tight footwear
Management
- proper footwear and orthotics
- NSAIDs
- surgery
State the pathogenesis of pes cavus
PES CAVUS
Pathogenesis
- idiopathic abnormally high medial longitudinal arch
- congenital (clubfoot) or secondary to neuromuscular damage (poliomyelitis)
- symptomatic with increasing age due to diminisehd ability for shock absorption
State the clinical features and management of pes cavus
PES CAVUS
Features
- pain in the foot which radiates up lower limb due to high stress placed on hindfoot during heel strike
Management
- proper footwwear and orthotics to support the foot and reduce the weght it has to bear
State the pathogenesis of pes planus
PES PLANUS
Pathogenesis
- weakness of muscles supporting the longitudinal arches (tibialis anteiror, tibialis posterior, flexor digitorum longus, flexor digitorum brevis, intrinsic foto muscles)
- flat foot during infancy is normal
State the clinical features and management of pes planus
PES PLANUS
Features
- foot and ankle pain precipiated by prolonged standing or activity
Management
- arch supporting inserts for shoes
- exercises
State the pathogenesis and clinical features of statin-induced myopathy
STATIN-INDUCED MYOPATHY
Pathogenesis
- myopathy induced by the statin class of anti-lipid drugs
Features
- muscle weakness that is more pronounced in proximal muscles of lower limbs
- muscle cramps triggered by exercise and relieved by rest
State the investigations, complicaitons and management of statin-induced myopathy
STATIN-INDUCED MYOPATHY
Investigations
- elevated blood CK due to myocyte lysis
Complication
- kidney damage
Management
- discontinue statin
- coenzyme q10 supplementation
State the pathogenesis of duchenne muscular dystrophy
- X-linked recessive disease that predominantly affect men
- Due to a mutation in the dystrophin gene, resulting in abnormalities in the protein dystrophin
- Normally, dystrophin is used to anchor the sarcolemma to actin fibres and to the extracellular matrix
- With a mutated dystrophin gene, the sarcolemma is no longer anchored to the ECM and the actin fibres, muscle contraction will lead to progressive tearing of the sarcolemma → scarring and eventual replacement with fatty tissue
State the clinical features and complications of duchenne muscular dystrophy
DUCHENNE MUSCULAR DYSTROPHY
Features
- gower sign
- lordotic
- waddling gait
- normal presentation in early childhood
- calf muscle pseudohypertrophy from fibrosis and fatty transformation
- life expectancy - 20-30 years old
Complication
- cardiac and respiratory failure
State the investigations and treatment of duchenne muscular dystrophy
DUCHENNE MUSCULAR DYSTROPHY
Investigations
- elevated blood CK
- DNA testing positive for dystrophin gene mutation
- muscle biopsy and IHC positive for dystrophin protein
Management
- corticosteroids
- physiotherapy
- supportive treatement - respiratory support
State the pathogenesis and clinical features of myotonic dystrophy
MYOTONIC DYSTROPHY
Pathogenesis
- autosomal dominant mutation
Clinical features
- frontal balding
- bilateral facial muscle weakness
- delayed muscle relaxation after handshake
- cataracts
- excessive daytime sleepines
