User Posts: Dr. Emily Black Davis, MD - Clinical, Biochemical Genetics, and Rare Diseases Specialist
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Ganglionopathy
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Ganglionopathy, also known as neuronopathy, is a group of disorders characterized by the primary degeneration or dysfunction of neuronal cell bodies located in ...

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Axonal Sensory Ataxic Neuropathy
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Axonal Sensory Ataxic Neuropathy (ASAN) is a form of sensory neuronopathy characterized by primary axonal degeneration of peripheral sensory fibers, often due ...

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Demyelinating Sensory Ataxic Neuropathy
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Demyelinating sensory ataxic neuropathy is a group of nervous system disorders in which the protective myelin sheath around peripheral sensory nerves is ...

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Mitochondrial SANDO Syndrome
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Mitochondrial SANDO Syndrome—short for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis—is a very rare, adult-onset mitochondrial disorder. It ...

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Chronic Inherited Sensory Ataxic Neuropathy
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Chronic Inherited Sensory Ataxic Neuropathy is a group of long-term genetic disorders in which the sensory nerves—those that carry information about touch, ...

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Subacute Sensory Neuronopathy
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Subacute sensory neuronopathy (also called subacute sensory ganglionopathy) is a disorder in which the nerve cell bodies in the dorsal root ganglia (clusters ...

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Acute Sensory Ataxic Neuropathy (ASAN)
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Acute Sensory Ataxic Neuropathy (ASAN) is a rare, monophasic disorder of the peripheral nervous system characterized by a sudden onset of sensory ...

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Flaccid Dysarthria
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Flaccid dysarthria is a motor speech disorder that arises when the lower motor neurons (LMNs) or peripheral nerves supplying the muscles of speech are damaged. ...

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Dysarthria
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Dysarthria is a motor speech disorder characterized by weakened, slow, or uncoordinated movements of the muscles used for speaking. Unlike aphasia, which ...

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Sensory Ataxic Neuropathy
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Sensory ataxic neuropathy is a disorder in which damage to sensory nerves—particularly the large myelinated fibers responsible for proprioception—disrupts the ...

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Schimmelpenning‐Feuerstein‐Mims Syndrome
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Schimmelpenning‐Feuerstein‐Mims syndrome is a rare, congenital neurocutaneous disorder characterized by the presence of sebaceous nevi—hamartomatous skin ...

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Linear Nevus Sebaceous Syndrome (LNSS)
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Linear nevus sebaceous syndrome (LNSS), also known as Schimmelpenning syndrome, is a rare congenital condition characterized by a distinctive, hairless, ...

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Schimmelpenning Syndrome
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Schimmelpenning syndrome (also known as linear nevus sebaceous syndrome or Schimmelpenning‐Feuerstein‐Mims syndrome) is a rare, congenital neurocutaneous ...

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Rett Syndrome
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Rett syndrome is a rare genetic disorder that primarily affects girls. In early infancy (the first 6–18 months), development appears normal. After this period, ...

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Ramsay Hunt Syndrome Type 2
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Ramsay Hunt syndrome type 2—also known as herpes zoster oticus—is a neurological disorder caused by reactivation of the varicella-zoster virus (VZV) in the ...

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Deep Palmar Branch Neuropathy
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Deep palmar branch neuropathy is a condition characterized by injury or compression of the deep (motor) branch of the ulnar nerve as it passes through Guyon’s ...

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Artisan’s Palsy
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Artisan’s Palsy is a type of occupational neuropathy affecting the deep palmar branch of the ulnar nerve at the wrist. It is also known as Ramsay Hunt syndrome ...

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Dentatorubral–Pallidoluysian Atrophy (DRPLA)
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Dentatorubral–pallidoluysian atrophy (DRPLA), often called Dentatorubral Degeneration, is a rare, inherited neurodegenerative disorder characterized by ...

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Dyssynergia Cerebellaris Myoclonica
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Dyssynergia Cerebellaris Myoclonica is a rare neurological condition characterized by involuntary, shock-like muscle jerks (myoclonus) superimposed on poor ...

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Ramsay Hunt Cerebellar Syndrome
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Ramsay Hunt Cerebellar Syndrome is a rare degenerative disorder of the cerebellum first described by James Ramsay Hunt. It is characterized by a combination of ...

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