Neuro - Nmj

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#1 inherited skeletal muscle disorder arising in adults

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Myotonic dystrophy

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Myotonic dystrophy: what inherit pattern?

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AD

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Myotonic dystrophy: what trinucleotide? what gene?

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CTG
Dystrophia myotonica protein kinase gene

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What dz:

Trinucleotide expansion in DMPK gene

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Myotonic dystrophy

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What dz:

CTG expansion

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Myotonic dystrophy

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What dz:

Early stiffness; action & percussion myotonia --> late prox weakness

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Myotonic dystrophy

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What dz:

cataracts, ptosis, arryth, dysphagia, insulin resistance, testic atrophy

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Myotonic dystrophy

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Myotonic dystrophy: how affect CK level?

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Normal or mild elevation

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Myotonic dystrophy: what drugs to reduce myotonia? (2)

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Phenytoin
Carbamazepine

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Myotonic dystrophy: prox or distal weakness?

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DISTAL

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Periodic paralysis: how inherit?

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AD

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Periodic paralysis: attacks precip by change in what ion?

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K (either hypo or hyperkalemic classes)

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Hypo or hyperkalemic Periodic Paralysis:

pore-forming alpha-1S unit of Ca2+ channel

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Hypo

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Hypokalemic Periodic Paralysis: what protein is mutated?

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pore-forming alpha-1S of Ca2+ channel in skel muscle --> dysfxn of Na/K ATPase

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Hypo or hyperkalemic Periodic Paralysis:

Mutation in Na+ channel

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Hyper

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Hyperkalemic Perioidic Paralysis: mutate which protein?

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Na channel

(contrast hypo: mutate Ca2+ channel --> dysfxn Na/K ATPase)

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What % mitochondrial proteins are encoded by NUCLEAR genes?

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90%

i.e. can inherit a mito dz via any pattern

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What dz:

Myopathy, encephalopathy, lactic acidosis and stroke-like episodes

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MELAS

(mito)

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How inherit;

Progressive external ophthalmoplegia (PEO)

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Mito

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How inherit;

Kearns-Sayre syndrome

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Mito

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Suspect what disease:

Myopathy & periph neuropathy & elevated lactate/pyruvate

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MITOCHONDRIAL DZS

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Distal Myopathies: usu acq or inherited?

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Inherited

(although acq polymyositis & inclusion body myo may appea distal)

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More common prox or distal weak:

Polymyositis

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Prox

(may see distal)

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More common prox or distal weak:

Inclusion body myositis

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Prox

(although may see distal)

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Inflamm myopathies: a/symm?

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Usu SYMM

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PM/DM/IBM: affect:

-pharyngeal muscles?
-neck flexors?
-facial muscles?
-resp muscles?

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May affect pharyng & neck flex

Usu spares face & resp musc

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What dz:

Polymyositis that fails to respond to steroids

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Inclusion Body Myositis

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Inclusion Body Myositis: how dx?

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Polymyositis that fails to respond to steroids

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What dz:

Heliotrope

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Dermatomyositis

(purple eyelid)

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What dz:

Gottren's patch

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Dermatomyositis

(papular knuckle)

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Dermatomyositis: name for:

Purple eyelids

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Heliotrope

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Dermatomyositis: name for:

Papular red knuckle

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Gottren's patch

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Inflamm myopathies: see:

-cardiac inv?
-pulm?

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Conduction defects & CHF

Interstitial lung dz

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What dz:

Microangiopathic disorder with Abs & complement attacking IM blood vessels

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Dermatomyositis

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Dermatomyositis: mxn?

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Abs & complement attack intramusc BVs --> isch --> 2' inflamm

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Which inflammatory myopathies:

Mediated by Ag-directed cytotoxic Ts

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Polymyositis
Inclusion Body myo
(NOT dermato: abs & comp against blood vessels)

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Inflamm myopathies:

-what serum marker always elevated?
-what change on EMG?

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CK always elev

EMG: muscle fiber necrosis --> denervation

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What dz:

RIMMED VACUOLES in muscle

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Inclusion body myositis

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How tx:

-polymyo
-inclusion body myo
-dermatomyo

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Polymyo & dermatomyo: STEROIDS

IBM is steroid-resistant!

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Which inflamm myopathy is steroid resistant?

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IBM

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Inflamm myopathies: are ALL painful?

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Yes

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Which inflamm myopathies have:

-prox weak
-distal weak

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Prox: PM & DM

Distal: IBM

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Thryotoxic myopathy: prox or distal weakness? inv bulbar or resp?

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PROXIMAL

(rarely see distal weak early)

Not inv bulbar or resp

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Thyrotoxic myopathy: hypo or hyperreflex?

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hyper

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Thyrotoxic myopathy: how affect:

CK level

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Normal

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Thyrotoxic myopathy: what tx to improve weakness acutely?

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BETA-BLOCKER

(txing hyperthyroid will eventually resolve weakness)

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Myopathic sxs in what fraction of hypothyroid pts?

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1/3

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Hypothyroid myopathy: prox or distal?

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Prox (same as hyperthyroid)

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Hyper or hypothyroid myopathy?

Elevated CK

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HYPO

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Hypothyroid myopathy: how affect CK level?

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ELEVATED (10-100x)

contrast hyperthyroid: no change CK

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What dose of prednisone per day --> increased risk of myopathy?

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>30mg /d

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Steroid myopathy: prox or distal? affect ocular/bulbar?

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Prox

No inv facial/bulb/ocular

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Steroid myopathy: what finding on muscle bx?

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Type II fiber atrophy (nonspecific)

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Which metabolic myopathy has ELEVATED CK?

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Hypothyroid

(most others have normal CK)

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Necrotizing myopathy: due to what drug class?

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HMV-CoA reductase inhibitors

Also: cyclosporin, propfol, EtOH

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Steroid myopathy: more common in NON - or FLUORINATED glucocorticoids?

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Fluorinated

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What DRUG can induce a mitochondrial myopathy?

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Zidovudine