1. IBMPFD/ALS, MSP or VCP disease

2. IBMPFD/ALS MSP VCP disease
Inclusion body myopathy, Paget’s disease of the bone, fronto-temporal dementia, amyotrophic lateral sclerosis
MSP
Multi system proteinopathy
VCP disease
Valosin containing protein disease

3. Muscle Weakness Clinical pattern of weakness
Limb girdle weakness– limb girdle muscular dystrophy
Distal weakness– distal myopathy
Scapuloperoneal weakness– scapuloperoneal dystrophy or fascio- scapulohumeral dystrophy
Pathologic features on muscle biopsy
Myopathy
Dystrophy
Inclusion body myopathy
Protein aggregate myopathy
Vacuolar myopathy
Myofibrillar myopathy

4. Clinical tests suggesting muscle disease
Exam with normal or reduced reflexes
Elevated creatine kinase (CK)
EMG with evidence of myopathy and irritability
MRI with evidence of muscle involvement

5. ALS or motor neuron disease
Weakness
Stiffness and slowness
Increased and decreased reflexes
EMG with evidence of denervation (can look like muscle irritability)
Muscle biopsy with pattern of dennervation

6. Patients with VCP disease often have a mixture of both/all features
Very challenging to diagnose

7. Fronto-temporal dementia
The nerves of the frontal lobe are contiguous (circuitry wise) with motor neurons
Clinical diagnosis
Personality changes
Disorganized
Agitation
Speech difficulty (aphasia)
Lab diagnosis- MRI and neuropsychologic testing

8. Parkinsonism or Parkinson’s disease
Slowness
Rigidity
Gait instability
Tremor
Clinical definition

9. Paget’s disease of the bone
Pain
Pathologic fractures
Diagnosed in clinic with alkaline phosphatase (ALP)
Skeletal survey looking for lytic lesions
Bone Scan looking for increase FDG uptake

10. VCP disease patients Can have any and all of these features
Patients in the same family can have any and all
Patients can develop any and all of these features

11. Sporadic inclusion body myositis
Only muscle weakness
Very stereotyped pattern of weakness
Muscle biopsy with inflammation
No denervation
No other features