The incidence of this disease is not precisely known but it is considered to be rare (6 population). It has been reported in 15 families to date mostly from Canada, Finland and France. This disease usually presents between the ages of 5 to 10 years old. The usual picture is with weakness involving the upper legs and affects activities such as running and climbing stairs. As the condition progresses, patients tend to experience weakness in their lower legs and arms. Some remain able to walk in advanced age, while others require assistance in adulthood.
Myopathy, X-linked, with excessive autophagy
Sporadic late-onset nemaline myopathy
Desmin-related myofibrillar myopathy
Variably protease-sensitive prionopathy
Frontotemporal dementia and parkinsonism linked to chromosome 17
Familial encephalopathy with neuroserpin inclusion bodies
Pantothenate kinase-associated neurodegeneration
Hereditary motor and sensory neuropathy with proximal dominance