Pattern Recognition of Myopathic PowerPoint Presentation, PPT - DocSlides

Pattern Recognition of

Myopathic Disorders

Richard J. Barohn, MDChair, Department of NeurologyGertrude and Dewey Ziegler Professor of NeurologyUniversity Distinguished ProfessorVice Chancellor for ResearchUniversity of Kansas Medical CenterKansas City, KS

www.rrnmf.com

Pattern Recognition of

Myopathic Disorders

Pattern MP1:Proximal “limb-girdle” weaknessAcute/subacute – acquiredInflammatory (PM/DM) - pain/rash/CTD

EndocrineToxic drugs

Chronic/congenital/painless – hereditaryMost dystrophiesCongenitalMitochondrial

Pompe’s diseaseCarnitine deficiency

Neuromuscular junction

Overlap with SMA

Pattern MP2:

Distal weakness

Distal muscular dystrophies: Late adult onset: Welander; Markesbery/UddEarly adult onset: Nonaka; Miyoshi; Laing

Myofibrillar (Desmin) myopathyMyotonic dystrophy

Congenital myopathiesOther: NMJ disease - MG, congenital MGOverlap with CMT/hereditary motor neuropathy

Pattern Recognition of Myopathic Disorders

Dimachkie

MM,

Barohn

RJ.

Neurol

Clin 2014;32(3):817-42

Barohn RJ et al. Autosomal recessive distal dystrophy.

Neurology

1991;41:1365-1370

Pattern MP3:

Proximal arm/distal leg weakness (Scapuloperoneal)

Facioscapulohumeral dystrophyWith facial weaknessScapuloperoneal myopathyEmery-Dreifuss humeroperoneal dystrophy

Pompe’s diseaseBarohn et al. Adult acid maltase deficiency. Muscle Nerve

1993;16:672-676Congenital myopathyPattern Recognition of

Myopathic Disorders

From: Barohn et al. Adult acid maltase deficiency.

Muscle Nerve

1993;16:672-676.

Pattern MP4:

Distal arm/proximal leg weaknessInclusion body myositis

Common presentationFinger & wrist flexor weaknessKnee extensor weaknessAsymmetricOccasionally myotonic dystrophy

Pattern Recognition of Myopathic Disorders

Amato AA, et al. Ann Neurol 1996;40(4):581-6.;Dimachkie MM, Barohn RJ. Neurol

Clin 2014;32(3):817-42

Pattern MP5: Eyeball Pattern

Ptosis / ophthalmoplegia

Ptosis without ophthalmoplegiaMyotonic dystrophyCongenital myopathiesPtosis with ophthalmoplegia

Oculopharyngeal dystrophyMitochondrial myopathy

Centronuclear myopathyNeuromuscular junction disease:

MG, LEMS, congenital MG, botulism**Diplopia

Pattern Recognition of

Myopathic

Disorders

Pattern MP6:

Prominent neck and trunk extensor weakness

Isolated neck extensor myopathy (INEM)Isolated trunk extensor myopathy (ITEM)Myasthenia gravis

IBM / PM/ DMMyotonic dystrophy

FSH dystrophyCongenital myopathyCarnitine deficiency

HyperparathyroidismOverlap pattern with ALS

Pattern Recognition of

Myopathic

Disorders

Katz JS, Wolfe GI, Bryan WW, Burns DK,

Barohn

RJ. Neurology 1996;47:917-21; Barohn RJ, Dimachkie MM, Jackson CE.

Neurol Clin 2014;32(3):569-93

Pattern MP7:

Bulbar weakness – tongue/pharyngeal/ diaphragm (dysarthria or dysphagia, SOB)MG, LEMS

Oculopharyngeal dystrophyLGMD 1A myotilinopathyMyotonic dystrophyIBMPompe (respiratory)

Overlap pattern with: ALS, Kennedy’s

Pattern Recognition of Myopathic Disorders

Pattern MP8:

Episodic pain, weakness,

myoglobinuria with triggerRelated to exerciseGlycogenoses (McArdle’s, etc)

Lipid disorders (CPT def)

Couch potatoes & exerciseNot related to exercise

Malignant hyperthermiaDrugs/toxins

Trauma (crush injury)

Other: Neuroleptic malignant syndrome

Epileptic status

Pattern Recognition

of

Myopathic Disorders

Sharp LJ, Haller RG. Neurol Clin 2014;32(3):777-99

Pattern MP9:

Episodic weakness delayed or unrelated to exerciseMyasthenia gravis

Periodic paralysisNa+ channelopathies (hyperkalemic)Ca++ channelopathies (hypokalemic)Andersen’s syndromeSecondary PP (thyrotoxicosis)

Pattern Recognition of Myopathic

DisordersMatthews E, et al. Brain 2010;133(Pt 1):9-22.

Pattern MP10:

Stiffness/decreased ability to relax

Improves with exerciseMyotonia – usually Cl- channelopathyWorsens with exercise/cold sensitivity

Paramyotonia - Na+ channelopathyBrody’s disease

With fixed weaknessMyotonic dystrophy (DM 1)Proximal myotonic myopathy (DM 2)Becker’s disease (AR Cl-

channelopathy)Other: rippling muscle, neuromyotonia, stiff-person

Pattern Recognition of Myopathic Disorders

Statland

JM, et al. JAMA 2012;308:1357-1365;

Trivedi

JR, et al. Brain 2013;136(Pt 7):2189-2200;

Statland J, Phillips L, Trivedi JR. Neurol Clin 2014;32(3):801-815

Clinical Patterns of Muscle Disorders

Weakness

PATTERN

Proximal

Distal

Asymmetric

Symmetric

Episodic

Trigger

Diagnosis

MP1 - Limb girdle

+

+

Most

myopathies

–

hereditary and acquired

MP2 – Distal*

+

+

Distal myopathies

(also neuropathies)

MP3 - Proximal arm / distal leg

“

scapuloperoneal

”

+

Arm

+

Leg

+

(FSH)

+

(others)

FSH, Emery-Dreifuss,

acid maltase, congenital scapuloperoneal

MP4 - Distal arm / proximal leg

+

Leg

+

Arm

+

IBM

Myotonic dystrophy

MP5 -

Ptosis / Ophthalmoplegia++ (MG)+(others)OPD, MG, myotonic dystrophy, mitochondriaMP6 - Neck – extensor*++INEM, MGMP7 - Bulbar (tongue, pharyngeal, diaphragm)*++MG, LEMS, OPD(also ALS)MP8 - Episodic weakness/ Pain/rhabdo + trigger++++McArdle’s, CPT, drugs, toxinsMP9 - Episodic weaknessDelayed or unrelated to exercise++++/-Primary periodic paralysisChannelopathies:Na+Ca++Secondary periodic paralysisMP10 - Stiffness/ Inability to relax++/-Myotonic dystrophy, channelopathies, PROMM, rippling (also stiff-person, neuromyotonia)

*Overlap patterns with neuropathic disorders Adapted from Barohn RJ, Dimachkie MM, Jackson RJ. Neurol Clin 2014;32(3):569-593