MSK (LL) Autoimmune, Metabolic, Iatrogenic, Congenital, Degenerative

Question 1

State the 4 common autoimmune conditions of the LL

Answer 1

1. myasthenia gravis
2. SLE
3. RA
4. Ankylosing spondylitis
5. Psoriatic arthritis

Question 2

State the features and complications of SLE (systemic lupus erythematosus)

Answer 2

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

Question 3

State the investigations and management used for SLE (systemic lupus erythematosus)

Answer 3

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)

Question 4

State the common causes of peripehral neuropathy

Answer 4

1. DM
2. B12 deficiency
3. Guillain-barre syndrome
4. Chronic idopathic demyelinating polyradiculoneuropathy (CIDP)

Question 5

State the presentation of peripheral neuropathy

Answer 5

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

Question 6

State the causes and presentations of peripheral neuropathy

Answer 6

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

Question 7

State the 3 variations/presentation of guillain-barre syndrome

Answer 7

1. affects nerve roots - descending paralysis
2. miller fisher type - affects eyes
3. bickerstaff - encephalitis

Question 8

State the treatment for guillain-barre syndrome

Answer 8

IVIG + supportive treatment

Question 9

State everything you know about guillain-barre syndrome
(causes, presentation, treatment)

Answer 9

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

Question 10

State the pathogenesis of vitamin b12 defiency

Answer 10

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)

Question 11

State the presentation and investigations of vitamin b12 deficiency

Answer 11

VITAMIN B12 DEFICIENCY

Presentation
- glove and stocking distribution of reduced sensation to light touch and vibration (DCML)

Investigation
- vitamin b12 measurement

Question 12

State everything you know about vitamin b12 defiency
(causes, presentation, investigation, treatment)

Answer 12

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

Question 13

State the pathogenesis and clinical features of osteomalacia

Answer 13

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

Question 14

State the investigation and treatment for osteomalacia.

Answer 14

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

Question 15

State everything you know about osteomalacia
(pathogenesis, features, investigations, treatment)

Answer 15

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

Question 16

State the features of femoral artery pseudoaneurysm

Answer 16

1. painful pulsatile mass at femoral triangle with bruit heard over area
2. slight diminished popliteal and dorsal pedis pulse on affected limb

Question 17

State the common visual deficit due to paget’s disease

Answer 17

monocular blindness - complete vision loss in one eye (optic N compression)

Question 18

State the pathogenesis of hallux valgus.

Answer 18

HALLUX VALGUS

Pathogenesis
- deformation of the bones of the big toe leading to protrusion of the 1st metatarsal phalangeal joint

Question 19

State the features and management of hallux valgus.

Answer 19

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

Question 20

State the pathogenesis of pes cavus

Answer 20

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

Question 21

State the clinical features and management of pes cavus

Answer 21

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

Question 22

State the pathogenesis of pes planus

Answer 22

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

Question 23

State the clinical features and management of pes planus

Answer 23

PES PLANUS

Features
- foot and ankle pain precipiated by prolonged standing or activity

Management
- arch supporting inserts for shoes
- exercises

Question 24

State the pathogenesis and clinical features of statin-induced myopathy

Answer 24

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

Question 25

State the **investigations**, **complicaitons** and **management** of **statin-induced myopathy**

Answer 25

**STATIN-INDUCED MYOPATHY** **Investigations** - elevated blood CK due to myocyte lysis **Complication** - kidney damage **Management** - discontinue statin - coenzyme q10 supplementation

Question 26

State the **pathogenesis** of **duchenne muscular dystrophy**

Answer 26

- 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

Question 27

State the **clinical features** and **complications** of **duchenne muscular dystrophy**

Answer 27

**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

Question 28

State the **investigations** and **treatment** of **duchenne muscular dystrophy**

Answer 28

**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

Question 29

State the **pathogenesis** and **clinical features** of **myotonic dystrophy**

Answer 29

**MYOTONIC DYSTROPHY** **Pathogenesis** - autosomal dominant mutation **Clinical features** - frontal balding - bilateral facial muscle weakness - delayed muscle relaxation after handshake - cataracts - excessive daytime sleepines