IBMPFD/ALS, MSP or VCP disease

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

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

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

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

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

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

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

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

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

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