Myopathy

Question 1

What is it?

Sym/assym

Onset

What does pseudo mean in medicine?

Answer 1

A disease of the muscle in which the muscle fibres do not function properly. This results in gradual symmetrical muscular weakness

False or deceptive

Question 2

What signs favour myopathy > neuropathy?

Answer 2

> Gradual onset of symmetric proximal weakness - difficulty combing hair, walking upstairs and rising from chair

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> Specific muscle groups affected (selective weakness on presentation)

> Preserved tendon reflexes

> No paraesthesia or bladder problems

> No fasciculations (suggests anterior horn cell or root disease)

Question 3

What does a rapid onset suggest? - 3

What does fatigability (increased weakness with exercise) suggest?

What does spontaneous pain at rest and local tenderness suggest?

What does pain on exercise suggest? - 2

What will happen to the muscles due to pseudo hypertrophic muscular dystrophies and why?

Answer 3

Toxin
Drugs
Metabolic

MG

Inflammatory myopathies

Ischaemia or metabolic myopathy

Oddly firm muscles - due to infiltrations with fat or connective tissue

Question 4

What may be raised in the bloods?

What is used to reach a diagnosis?

Answer 4

ESR - inflammatory
CK - raised in muscle breakdown
AST and LDH

Muscle biopsy and genetic testing

Question 5

Muscular dystrophies:

Cause?

What is it?

Why do they get firm muscles?

Answer 5

Genetics

Progressive degeneration and weakness of specific muscle groups.

Due to infiltrations with fat or connective tissue

Question 6

Muscular dystrophies:

Duchenne’s muscular dystrophy:

• What age does it present at?
• How does it present?
• What is the pseudohypertrophy worst?
• What is usually very raised in the blood?
• Prognosis

Answer 6

Around 4 yrs old

Clumsy walking then difficulty standing then resp failure.

Calves

Creatine kinase

Poor - some make it past 20 yrs

Question 7

Muscular dystrophies:

Becker’s muscular dystrophy:
- How does it compare to Duchenne’s? - 3

Facioscapulohumeral muscular dystrophy (FSHD):

• What are they unable to do? - 2
• Signs - just read?

Answer 7

Presents later
Has milder symptoms
Better prognosis

Puff out cheeks

A weakness of:
- Face (ironed out expression)
Shoulders
- Upper arms 
- Foot drop 

Scapular winging *****- shoulder examination Scoliosis

Question 8

Myotonic disorders:

What do the disorders cause?

Answer 8

Muscle spasm basically

Question 9

Myotonic disorders - Myotonic dystrophy type 1 (DM1):

What is the age of onset?

Why is important?

Why is DM2 not as important?

How do most of them die?

Answer 9

20-40 yrs old

Most common ADULT-onset muscular dystrophy

Rarer
Milder symptoms

Cardiac complications

Question 10

Myotonic disorders - Myotonic dystrophy type 1 (DM1):

S+S:

• You get myotonia - what is it?
• You get muscle wasting - how is this seen on a patient? - 4
• Facial - 3
• CNS - 3

Answer 10

Delayed muscle relaxation which means they can’t release grip.

Weak distal limbs
Ptosis
Expressionless face
Slurred/indistinct speech

Frontal balding
Long/thin face
Cataracts

Apathy
Hypersomnia
Mild intellectual impairment

Question 11

Myotonic disorders - Myotonic dystrophy type 1 (DM1):

S+S:

• CV - 2
• Pancreas
• What could disrupt their sleep

Answer 11

Cardiomyopathy
Heart block
Insulin resistance

Central/obstructive sleep apnoea

Question 12

Myotonic disorders - Myotonic dystrophy type 1 (DM1):

Investigations:

Main diagnostic tool

Why is used to monitor muscle activity?

Testing for complications:

• Why is an annual ECG done?
• Why needs to be screened for annually?

Answer 12

Genetic testing - can be for symptomatic, pre-symptomatic, or prenatally

Electromyography is an electrodiagnostic medicine technique for evaluating and recording the electrical activity produced by skeletal muscles.

Heart blocks and cardiomyopathy

Cataracts

Question 13

Myotonic disorders - Myotonic dystrophy type 1 (DM1):

Management:

> What does the physiotherapist do for them?

> What is a tricyclic antidepressant (clomipramine) or Taurine (an amino acid) given to these patients?

> What should be used to heart blocks?

> What about sleep apnoea?

Answer 13

Weakness and gait problems - includes strength training and aerobic exercise programmes.

For severe muscular cramps - myotonia

Pacemaker or ICD

NIV

Question 14

Inflammatory myopathies - When do they get muscle pain?

Metabolic myopathies:

• What is Mc Ardie’s disease?
• Symptoms

Answer 14

At rest and tenderness on palpation

A deficiency of muscle phosphorylase.
This is an important substance needed to break down glycogen in your muscle cells.
The condition causes fatigue and muscle pain during exercise.