Clinical Neuroscience - Myopathy/Neuropathy

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This flashcard set covers university-level clinical neuroscience, focusing on the diagnosis, symptoms, and treatment of myopathies and neuropathies. It delves into various diseases, their causes, and the use of steroids, IVIG, and other treatments. The set is particularly useful for medical students and professionals seeking to understand the complexities of muscle and nerve disorders, including autoimmune and inflammatory conditions.

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Lernende

Sprache

Englisch

Kategorie

Medizin

Stufe

Universität

Erstellt / Aktualisiert

31.05.2014 / 31.05.2015

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Neuromuscular Disorders are divided into Myopathies and Neuropathies. Total incidence of those disorders in CH is 110:100.000. Which disease belong to the group of Myopathies?

Myopathy = 'Muskelleiden'

Hereditary Myopathies (hMP)

ALS

Myasthenia Gravis

Immune Myopathies

Which diseases fall under the group of Neuropathies?

Neuropathy --> peripheres Nevensystem betroffen

Hereditary Neuropathies (hNP)

CIDP (Chronic Inflammatory Demyelinating Polyneuropathy)

MMN (Multifocal Motor Neuropathy)

CIDP and MMN belong to inflammatory Polyneuropathies

Which are the plausible causes for Myopathies?

toxic (alcohol, steroids, statins,..)

inflammation ('myositis')

endocrine-metabolic

hereditary

neuropathies

What are the prominen symptoms in Myopathies?

often non-specific --> Muscle types and muscle functions vary great among individuals

weakness

decreased volume of muscle

fatigability

pain

Myopathy = muscular disease, in which muscle fibers do not function resulting in muscular weakness and the defect is located within muscle. What is causing a toxic myopathy?

(chronic) alcohol abuse

alcohol is a freqeunt cause

statins (induced by lipid lowering therapies)

steroids (used in inflammation therapy)

smoking

What are the 3 major causes for a infectious Myopathy?

viral myositis

inlfuenza A/B is not able to cause a VM

bacterial myositis

parasitical myostis

parasitcal and bacterial myositis is rare

Which disorders belong to the common autoimmune/inflammatory myositis?

Polymyositis (PM)

Dermatomyositis (DM)

Inclusion Body Myositis (IBM)

Polymyalgia rheumatica (PR)

Sarkoidose = (=granuloma accumulation in organs)

What is true about Polymyositis?

symptoms: proximal symmetric weakness and myalgia (~20%)

CK level is no indicator

diagnosis via MRI, autoAB and/or biopsy

pathology: MHCI upregulation & lymphatic inflammation

treatment: steroids, immunosuppressants and IvIg

What is true about Dermatomyositis?

symptoms: proximal weakness & skin changes (periorbital or Decollteé)

CK level is elevated

diagnosis via autoantibody

no significant pathology

treatment: steroids, immunosuppressants and IvIg

What is true about Inclusion-body Myositis?

Symptoms: proximal and/or distal, often asymmetric weakness

slight or none elevation of CK level

diagnosis via biopsy

internalized nuclei (inclusion bodies) as pathology

treatment: none

What is true about Polymyalgia rheumatica?

muscle/joint pain & fatigue & sweating

normal CK level

diagnosis via BSR > 40mm/h (~80%) (= Blutsenkungsreaktion)

pathology: giant cell arteritis

fast and persistent treatment with steroids

Which type of hereditary Myopathies are there?

dominant: DM1 and FSHD

recessive

X-chromosomal: DMD and BMD

maternal (manifested in mitoDNA)

paternal

Which are the 3 maternal inherited myopathies?

Pompe Disease

McArdle (Phosphorylase Deficiency)

Mitochondrial Cytopathy

BMD

What are the facts about Myotonic Distrophy (DM1)

Prevalence = 100:1Mio

cause: prolonged CTG-expansion in the myotonin kinase gene

anticipation: onset and severity of the disease is correlated with the triplet repeat length

diagnosis: missing mimics and missing musculus temporalis and typical EMG-findings (myotonic reaction)

Symptoms: weakness, myotonic reaction, fatigue

What are the important facts about DMD?

Duchenne muscle dystrophy – DMD1:3500 (male) = Lacking Dystrophin

Becker muscle dystrophy – BMD1:20.000 = Diminshed Dystrophin

Symptoms: weakness, atrophy ( wasting away of a part of the body), hypertrophie

Diseas progression: onset (3-5a) --> loss of ambulation (Gehfähigkeit) --> death (30-40a)

Diagnosis: very high CK (normal = 200U/l), genetic testing and mental retardation

What is important about Pompe Disease?

= acid maltase deficiency

Onset: with adultness, ø-onset with 29 years

Symptoms: fatigue, leg weakness, cramps, contractures, back pain

Respiratory insuffiency (5-30%) is not a symptom

Treatment: Enzyme replacment therapy – ERT

What is important about Mysthenia Gravis?

Autoimmune neuro-muscular disease with a prevalence of 200:1Mio

Cause: ABs block acetylcholine-esterase receptors

Diagnosis: Tensilon-test, Auto-antibodies, electrophysiology or thoracal CT

Treatment: Acetylcholinesterase-inhibitors, Immunosuppression , Plasmapheresis, Rituximab

cause in ~10%: thymoma = tumor of the thymus --> thymektomie

Electromyography:
technique for evaluating and recording the electrical activity produced by skeletal muscles.
How can myopathies be distinguished from neuropathies?

myopathies show small amplitudes

myopathies show full interference pattern

neuropathies show high amplitudes

neuropathies show incomplete interference pattern

myopathies show high amplitudes

What are the major etiologies for neuropathies?

Metabolic (Diabetes): distal sensory PNP ~80%

Vitamin deficiency (B12)

Toxic (alcohol): prevalence PNP of 9% fo abuser with cofactor malnutrition

Infectious: autoimmune-inflammatory

Paraneoplastic (cancer): sensory painful PNP

What is important aubout polyneuropathies (PNP)?

Often symmetric distal onset = in legs

diminished sweating and tendon reflexes

infectious NP: caused by Borreliosis, HIV, HCV and HBV

autoimmune NPs: demyelinating versus axonal

GBS and CDIP are not demyelinating NPs

General principles of autoimmune neuropathies?

Often prodromal illness: infection – vaccination – trauma

Molecular mimicry: activation of mφ and autoAB

demyelination and/or axonal damage as result

Secondary alteration BBB

GBS - Guillain–Barré syndrome - what are important aspects?

Incidence: M:F =1.25:1 and 1-2:100.000

Young adults and > 55 years

Ethnic risk factor: C.jejuni / AMAN in China

obligatory diagnosis: progessive flaccid palsy (schlaffe Lähmung) and areflexia/hyporeflexia

no genetic risk factors known

What is true about symptoms and progression of GBS?

Ascending bilateral leg palsy (symptom)

hypo-/areflexia and facial (flaccid) palsy in ~70%

Life threathening via cardial arrhythmia

Mortality: 3-10%

Respiratory insufficiency ~70%

How is GBS treated?

Immunmodulation

IM = intravenous immunoglobulins (IvIg)

IM = plasmaphoresis (PEX)

Supportive measures

PEX is more effective than IvIg

What is true about MMN - Mutlifocal Motor Neuropathy?

only affecting motor neurons

M:F = 2:1, ø-onset 40 years

Diagnosis: conduction blocks, CSF protein slightly elevated in 33% and high titer of anti-GM1-AB

Treatment: good response to IvIg

differential diagnosis: ALS!

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Clinical Neuroscience - Myopathy/Neuropathy

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