Abstract
Abstract Neuropathy might be the presenting or accompanying sign in many neurogenetic and metabolic disorders apart from the classical-peripheral neuropathies or motor-neuron diseases. This causes a diagnostic challenge which is of particular relevance since a number of the underlying diseases could be treated. Thus, we attempt to give a clinical overview on the most common genetic diseases with clinically manifesting neuropathy.
Highlights
Neuropathy might be the presenting or accompanying sign in many neurogenetic and metabolic disorders apart from the classical-peripheral neuropathies or motorneuron diseases
Many forms of hereditary spastic paraplegia (HSP), amyotrophic lateral sclerosis (ALS), motor neuron diseases, and Charcot-Marie-Tooth (CMT) disease seem to be allelic diseases presenting with specific phenotypes depending on the mutation or genetic background [13], it would not be surprising to observe a neuropathy in a patient with ALS
We would like to mention a new emerging gene: striated muscle preferentially expressed protein kinase (SPEG, *615959). It interacts with MTM1, and we have recently described it as a cause of neuropathy and congenital myopathy [78]
Summary
Yes childhood early learning difficulties, short stature, hepatosplenomegaly, thick bones, sometimes hearing loss hoarseness, irritability, restricted joint movements, nodules joints, lungs, progressive, cerebral infarcts MTHFR defects, increased homocysteine in urine, secondary microcephaly, seizures, lower motorneuron sign initially irritability, dyskinesia, regression, spasticity, motor neuron involvement, demyelination in brain-MRI with high T2 signal early ataxia, regression of motor skills, later optic atrophy, mixed motorneuron signs
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