MT-ATP6-related mitochondrial spastic paraplegia

Orpha code: 320360OMIM code:

Definition

MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.

Disease data
Classification

Disease

Synonyms
Maternally-inherited SPG
SPG odziedziczona od matki
Maternally-inherited spastic paraplegia
ORPHA code
320360
OMIM code
-
ICD10 code
G11.4
ICD11 code
-

No additional description.

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