PNS DI-Exam I Flashcards
Definition: A slowly progressing hereditary, usually autosomal dominant peripheral polyneurpathy with multiple etiologies. This is a heterogenous syndrome composed of several genetic disorders.
Charcot-Marie-Tooth Disease-definition
Synonyms: Hereditary Motor and Sensory Neuropathy (HMSN); Peroneal Muscular Atrophy
Charcot-Marie-Tooth Disease-Synonym
Etiology: autosomal dominant trait; caused by mutations in 40+ genes expressed in Schwann cells; most commonly the mutation is in the peripheral myelin protein 22
Charcot-Marie-Tooth Disease-Etiology
most common mutation that causes this disease is a mutation in the peripheral myelin protein 22 (PMP22)
Charcot-Marie-Tooth Disease Mutation
Pathology: demyelinating neuropathy with both a myelinopathy and an axonopathy component. Chronic demyelination/remyelination cycles with degeneration of peripheral nerves and roots.
The demyelination is mainly large sensory fibers (more distal than proximal). The demyelination and degredation extends inward to the dorsal extent of the fasciculus gracilis and cuneatus
Pathology of Charcot-Marie-Tooth Disease
onion bulb formation found in the nerves are common in…
Charcot-Marie-Tooth Disease
Pathophysiology: Duplication of the gene for peripheral myelin protein (PMP22) causes this disease (this is the most common form of the disease)
Charcot-Marie Tooth Disease
Mutation in myelin protein zero (MPZ) and in the connexin -32 commonly contribute to this disease
Charcot-Marie Tooth Disease
What is the classification of the most common form of CMT, which is an autosomal dominant demyelinating form of the disease.
CMT type 1A
This disease presents as insidious onset in late childhood or early adolescence. Difficulty running.
Motor signs: frequent weakness and ankle sprains, slapping feet, stumbling
Sensory signs: not usually severe sensory loss; lose proprioception
Presentation of Charcot-Marie Tooth Disease
patients with this disease have the following MSK deformities: extreme deformity; distal muscle atrophy starting in the hands, then feet and progressing axially. Peroneal muscular atrophy; palpable hypertonic nerves; pes cavus and pied en griffe
Presentation of Charcot Marie Tooth Disease
A patient with prominent muscle wasting, hyperextension of the wrist with flexion of the digits has symptoms of…
Charcot Marie Tooth Disease
sudden severe and excruciating paroxysms of electric shock-like facial pain usually focused around the lips, gums, cheek or chin; often triggered by mechanical stimuli such as teeth brushing, chewing
definition of Trigeminal Neuralgia
Another word for this disease is Tic Doulourux
synonym for trigeminal neuralgia
Etiology of this disease is: mechanical compression of the fifth cranial nerve root, most commonly by the superior cerebellar artery. This disease may also be caused by demyelinating plaques of MS located on the trigeminal motor nucleus
trigeminal neuralgia etiology
What nerve is compressed in trigeminal neuralgia? What part of the nerve is compressed?
fifth cranial nerve root
What structure usually compresses the nerve involved in Trigeminal Neuralgia
superior cerebellar artery
Typical presentation of this disease includes: abrupt onset and termination of shock-like, stabbing facial pain; usually unilateral pain; long intervals between attacks;
trigeminal neuralgia
treatment of this disease includes anticonvulsants, anti spasticity drugs when indicated, local anaesthetic and neural blocks
pharmaceutical treatment of Trigeminal neuralgia
treatment of this disease includes surgical decompression of the root, surgical neurectomy or gangliolysis, radiosurgery with gamma knife
surgical treatment of trigeminal neuralgia
This disease is an acute and often severe demyelinating inflammatory polyradiculoneuropathy
Guillain-Barre Syndrome definition
Etiology: this is the most common cause of acute generalized weakness. This syndrome is normally preceded by an infection such as diarrhea or upper respiratory tract infection; campylobacter jejuni is the most common preceding infection of this syndrome
Guillain-Barre Syndrome etiology
pathogenesis of this syndrome includes: demylination of the nerve due to improper immune response, deposition of complement on the outside of the myelinated fiber and inflammatory cell infiltration and myelin degeneration. Macrophages can also play a role in destroying schwann cells
pathogenesis of GBS
Presentation of this disease includes: rapidly progressing weakness for about 4 weeks, weakness starting in the legs and progressing upwards, more motor loss than sensory loss, pain, hyporeflexia, areflexia, ophthalmoparesis (15% of cases), Autonomic dysfunction (65% cases); in some cases, progression of the disease will also cause respiratory problems
Patient presentation of GBS
tumors that arise from the schwann cells that surround peripheral nerve fibers cause…
Schwannoma (neuromas, nerve sheath tumor)
Pathophisiology of this disease is commonly loss of expression of merlin or the inactivation of the NF2 gene on chromosome 22
Schwannoma
slow growing tumor on a cranial or spinal nerve (most commonly CN 8 and 5); benign tumor with mass effects
pathology of Schwannoma
presentation of this disease largely depends on tumor placement. But the most common location (which CN?) causes gradual or progressive sensorineural hearing loss, vestibular dysfunction, sometime facial palsy
Schwannoma (of CN 8) presentation
Schwannoma from a tumor on CN 8 is called
acoustic neuroma
Protrusion and herniation of the disks in the lumbar spine are the most common cause of…
Neuropathy of Lumbar roots
The most likely disk level to protrude and herniate, causing neuropathy is…
L5-S1
the second most common level of disk herniation in the lumbar spine is…
L4-L5
Where does the ganglion for the trigeminal nerve sit
a pocket in the middle cranial fossa, called Meckel’s cave
Trigeminal Nerve
Cranial Nerve V
