All individuals with Machado-Joseph disease have the same mutation to the gene but the symptoms are variable. Due to the wide range of symptoms caused by Machado-Joseph disease, there are 5 different sub-types of the condition:
Type 1 affects 13% of individuals and develops quickly causing stiff muscles in those 10 to 30 years old. Type 2 affects 57% of individuals and develops at an intermediate rate affecting the walking pattern of those 20-50 years old. Type 3 affects 30% of Machado-Joseph disease patients and develops slowly causing muscle twitching, strange sensations of numbness and visual changes. This affects those 40 to 70 years old. Type 4 causes symptoms are similar to Parkinson’s disease such as a tremor, a shuffling walking pattern or difficulty beginning movement patterns. Type 5 causes symptoms similar to Hereditary Spastic Paraplegia such as muscle weakness, cramps, abnormal foot alignment and joint pain.
All individuals with Machado-Joseph disease substantially benefit from specialist neurological physiotherapy assessment and treatment.
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