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Pattern Recognition of
Myopathic Disorders
Richard J. Barohn, MD
Chair, Department of Neurology
Gertrude and Dewey Ziegler Professor of Neurology
University Distinguished Professor
Vice Chancellor for Research
University of Kansas Medical Center
Kansas City, KS
Pattern Recognition of Myopathic Disorders
Pattern MP1:
• Proximal “limb-girdle” weakness
– Acute/subacute – acquired
• Inflammatory (PM/DM) - pain/rash/CTD
• Endocrine
• Toxic drugs
– Chronic/congenital/painless – hereditary
• Most dystrophies
• Congenital
• Mitochondrial
• Pompe’s disease
• Carnitine deficiency
• Neuromuscular junction
• Overlap with SMA
Pattern Recognition of Myopathic Disorders
Pattern MP2:
• Distal weakness
̶ Distal muscular dystrophies:
• Late adult onset: Welander;
Markesbery/Udd
• Early adult onset: Nonaka;
Miyoshi; Laing
• Myofibrillar (Desmin) myopathy
• Myotonic dystrophy
• Congenital myopathies
• Other: NMJ disease - MG,
congenital MG
• Overlap with CMT/hereditary
motor neuropathy
Barohn RJ et al. Autosomal recessive distal dystrophy.
Neurology 1991;41:1365-1370
Dimachkie MM, Barohn RJ. Neurol Clin 2014;32(3):817-42
Pattern Recognition of Myopathic Disorders
Pattern MP3:
• Proximal arm/distal leg weakness
(Scapuloperoneal)
• Facioscapulohumeral dystrophy
• With facial weakness
• Scapuloperoneal myopathy
• Emery-Dreifuss humeroperoneal
dystrophy
• Pompe’s disease
• Barohn et al. Adult acid maltase deficiency. Muscle
Nerve 1993;16:672-676
• Congenital myopathy
From: Barohn et al. Adult acid maltase deficiency.
Muscle Nerve 1993;16:672-676.
Pattern Recognition of Myopathic Disorders
Pattern MP4:
• Distal arm/proximal leg weakness
• Inclusion body myositis
• Common presentation
• Finger & wrist flexor weakness
• Knee extensor weakness
• Asymmetric
• Occasionally myotonic dystrophy
Amato AA, et al. Ann Neurol 1996;40(4):581-6.;Dimachkie MM, Barohn RJ. Neurol Clin 2014;32(3):817-42
Pattern Recognition of Myopathic Disorders
Pattern MP5: Eyeball Pattern
• Ptosis / ophthalmoplegia
• Ptosis without ophthalmoplegia
• Myotonic dystrophy
• Congenital myopathies
• Ptosis with ophthalmoplegia
• Oculopharyngeal dystrophy
• Mitochondrial myopathy
• Centronuclear myopathy
• Neuromuscular 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/ DM
– Myotonic dystrophy
– FSH dystrophy
– Congenital myopathy
– Carnitine deficiency
– Hyperparathyroidism
– Overlap pattern with ALS
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):56993
Pattern Recognition of Myopathic Disorders
Pattern MP7:
• Bulbar weakness –
tongue/pharyngeal/ diaphragm
(dysarthria or dysphagia, SOB)
• MG, LEMS
• Oculopharyngeal dystrophy
• LGMD 1A myotilinopathy
• Myotonic dystrophy
• IBM
• Pompe (respiratory)
• Overlap pattern with: ALS,
Kennedy’s
Pattern Recognition of Myopathic Disorders
Pattern MP8:
• Episodic pain, weakness, myoglobinuria with trigger
– Related to exercise
• Glycogenoses (McArdle’s, etc)
• Lipid disorders (CPT def)
• Couch potatoes & exercise
– Not related to exercise
• Malignant hyperthermia
• Drugs/toxins
• Trauma (crush injury)
• Other: Neuroleptic malignant syndrome
̶ Epileptic status
Sharp LJ, Haller RG. Neurol Clin 2014;32(3):777-99
Pattern Recognition of Myopathic Disorders
Pattern MP9:
• Episodic weakness delayed or unrelated to exercise
• Myasthenia gravis
• Periodic paralysis
•
•
•
•
Na+ channelopathies (hyperkalemic)
Ca++ channelopathies (hypokalemic)
Andersen’s syndrome
Secondary PP (thyrotoxicosis)
Matthews E, et al. Brain 2010;133(Pt 1):9-22.
Pattern Recognition of Myopathic Disorders
Pattern MP10:
• Stiffness/decreased ability to relax
– Improves with exercise
• Myotonia – usually Cl- channelopathy
– Worsens with exercise/cold sensitivity
• Paramyotonia - Na+ channelopathy
• Brody’s disease
– With fixed weakness
• Myotonic dystrophy (DM 1)
• Proximal myotonic myopathy (DM 2)
• Becker’s disease (AR Cl- channelopathy)
– Other: rippling muscle, neuromyotonia, stiff-person
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
Proximal
Distal
Asymmetric
Symmetric
Episodic
Trigger
Diagnosis
PATTERN
MP1 - Limb girdle
+
MP2 – Distal*
+
+
Most myopathies –
hereditary and acquired
+
Distal myopathies
(also neuropathies)
MP3 - Proximal arm / distal leg
“scapuloperoneal”
+
Arm
+
Leg
+
(FSH)
MP4 - Distal arm / proximal leg
+
Leg
+
Arm
+
MP5 - Ptosis / Ophthalmoplegia
+
MP6 - Neck – extensor*
+
+
INEM, MG
MP7 - Bulbar (tongue, pharyngeal,
diaphragm)*
+
+
MG, LEMS, OPD
(also ALS)
MP8 - Episodic weakness/
Pain/rhabdo + trigger
+
+
+
+
McArdle’s, CPT, drugs, toxins
MP9 - Episodic weakness
Delayed or unrelated to exercise
+
+
+
+/-
Primary periodic paralysis
Channelopathies:
Na+
Ca++
Secondary periodic paralysis
+
+/-
Myotonic dystrophy, channelopathies, PROMM,
rippling (also stiff-person, neuromyotonia)
MP10 - Stiffness/ Inability to relax
*Overlap patterns with neuropathic disorders
+
(MG)
+
(others)
FSH, Emery-Dreifuss,
acid maltase, congenital scapuloperoneal
IBM
Myotonic dystrophy
+
(others)
OPD, MG, myotonic dystrophy, mitochondria
Adapted from Barohn RJ, Dimachkie MM, Jackson RJ. Neurol Clin 2014;32(3):569-593