Calvarial hyperostosis, Cardiomyopathy, Cataract, Congestive heart failure, Cranial nerve compression, Degeneration of anterior horn cells, Depression, Distal muscle weakness, Dyscalculia, Dyspnea, EMG: chronic denervation signs, EMG: myopathic abnormalities, EMG: neuropathic changes, Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase concentration, Emotional lability, Fasciculations, Fatigable weakness of bulbar muscles, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Fatty replacement of skeletal muscle, Frontotemporal dementia, Generalized amyotrophy, Generalized muscle weakness, Hepatic steatosis, Hip pain, Hyperlordosis, Increased susceptibility to fractures, Increased variability in muscle fiber diameter, Intellectual disability, Language impairment, Laryngospasm, Motor axonal neuropathy, Muscle fiber inclusion bodies, Muscle spasm, Muscular dystrophy, Mutism, Nausea and vomiting, Neurodegeneration, Osteolysis, Pain, Paralysis, Pathologic fracture, Proximal muscle weakness, Respiratory insufficiency, Rimmed vacuoles, Sensory axonal neuropathy, Short stature, Skeletal muscle atrophy, Spasticity, Ubiquitin-positive cerebral inclusion bodies, Upper motor neuron dysfunction, Urinary bladder sphincter dysfunction, Waddling gait, Weakness of muscles of respiration, Xerostomia