PART 2. ELECTRODIAGNOSTIC DIFFERENTIAL DIAGNOSIS OF COMMON



Similar documents
Comprehensive List of Neuromuscular Disorders Covered by Muscular Dystrophy Canada

Neuromuscular Medicine Fellowship Curriculum

Aetna Nerve Conduction Study Policy

Facts About. Metabolic. Diseases of Muscle

Neonatal Hypotonia. Clinical Approach to Floppy Baby

EMG and the Electrodiagnostic Consultation for the Family Physician

3nd Biennial Contemporary Clinical Neurophysiological Symposium October 12, 2013 Fundamentals of NCS and NMJ Testing

Name of Policy: Neuromuscular and Electrodiagnostic Testing (EDX): Nerve Conduction Studies (NCS) and Electromyography (EMG) Studies

Electrodiagnostic Assessment: An Introduction to NCS and EMG

Nerve Conduction Velocity (NCV) & Electromyography (EMG) Studies

Neuromuscular diseases

ELECTRODIAGNOSTIC MEDICINE

Pain Management Top Diagnosis Codes (Crosswalk)

ICD-9 to ICD-10 Conversion Commonly Used Neurologic Diagnosis

Chiropractic ICD 9 Code List

9/11/12. EMG for OPAs. Amy Eswein, MSPT. Evaluation of Peripheral Nerve Injuries. Exam has two parts:! Nerve Conduction Study! Needle EMG!

Role of Electrodiagnostic Tests in Neuromuscular Disease

Facts About. Facioscapulohumeral Muscular Dystrophy

Facts About. Mitochondrial. Myopathies

Differentiating Cervical Radiculopathy and Peripheral Neuropathy. Adam P. Smith, MD

ICD10 Chiropractic Diagnosis Codes

Basic Concepts. Focal and Entrapment Neuropathies and EMG. Pathophysiology. Median Nerve. A Clinical Approach

MedStar Health, Inc. POLICY AND PROCEDURE MANUAL

Compression Neuropathies. Andrew Martin DO, MBA, CAQSM OMED 2013

Chiropractic ICD-10 Common Codes List

Entrapment and Compressive Neuropathies

Facts About. Myopathies

a) Nerve conduction studies (NCS) test the peripheral nervous system for:

DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES

EMG AND NCS: A PRACTICAL APPROACH TO ELECTRODIAGNOSTICS

Medical Report Checklist: Upper Extremities Peripheral Nerve Disorders Impairments (PND)

Facts About. Friedreich s Ataxia

Facts About. Rare Muscular Dystrophies (Congenital, Distal, Emery-Dreifuss and Oculopharyngeal)

Radiculopathy vs. Peripheral Neuropathy. What to do with arm pain? Defining Arm Pain. Arm Pain

How To Perform Nerve Conduction Velocity Studies

Multifocal Motor Neuropathy. Jonathan Katz, MD Richard Lewis, MD

Pediatric Nerve Conduction Studies and EMG

Nerve conduction studies

ICD-10 Cheat Sheet Frequently Used ICD-10 Codes for Musculoskeletal Conditions *

Case Study: John Woodbury

CAUTION: FOR TRAINING PURPOSES ONLY. ABSOLUTELY NO WARRANTY IMPLIED.

Facts About. Duchenne & Becker Muscular Dystrophies

How To Know If You Can Get A Carpal Tunnel Injury Compensation

Muscular Dystrophy. By. Tina Strauss

OVERVIEW. NEUROSURGICAL ASSESSMENT CERVICAL PROBLEMS Dirk G. Franzen, M.D. WHAT IS THE MOST IMPORTANT PART OF THE PHYSICAL EXAM?

An Easy Guide to TENS Pain Relief. Distibuted By: LgMedSupply.com PO Box 913 Cherry Hill, NJ

Facts About. Myasthenia Gravis, Lambert-Eaton Myasthenic Syndrome & Congenital Myasthenic Syndromes

Guidelines for Clinical Neurophysiology

Laser Treatment Policy

Links in PDF documents are not guaranteed to work. To follow a web link, please use the MCD Website.

Ultrasound of muscle disorders

Facts About. Myotonic Muscular Dystrophy

CLINICAL NEUROPHYSIOLOGY

CERVICAL DISC HERNIATION

Colossus Important Diagnoses. Instructions for How to List Diagnoses

CLINICAL APPROACH TO THE FLOPPY CHILD

o Understand the anatomy of the covered areas. This includes bony, muscular and ligamentous anatomy.

Billing and Coding Guidelines: NEURO-005 Nerve Conduction Studies and Electromyography. Contractor Name Wisconsin Physicians Service (WPS)

Medical Drug Monitoring ICD-10-CM Sign and Symptom Codes

Inflammatory Myopathies

Guidebook for NMDs professional parent or patient

Ergonomics Monitor Training Manual

LCD for Nerve Conduction Studies (NCS)/Electromyography (EMG) (L26869) Contractor Information

MRI EXAM CPT CODE REFERENCE

Appendix A Partial Pick List of Injury and Sequelae Codes (ICD-10-CA)

Electrodiagnostic Testing

Closed Automobile Insurance Third Party Liability Bodily Injury Claim Study in Ontario

AMA Guides & California Code of Regulations P&S Report Checklist

Doctor I can t walk properly - a guided walk around some gait problems

5/13/2013. Evaluation of Peripheral Nervous System Dysfunction. Disclosures. Peripheral Nervous System

M05.9 Rheumatoid arthritis with rheumatoid factor, unspecified M06.00 Rheumatoid arthritis without rheumatoid factor, unspecified site M06.

Dermatomes and Myotomes

Electromyography and Nerve Conduction Studies

CTS the Best EDX. Ernest W Johnson MD Emeritus Professor Physical Medicine & Rehabilitation The Ohio State University

DIVISION OF RHEUMATOLOGY DEPARTMENT OF MEDICINE UNIVERSITY OF WESTERN ONTARIO POSTGRADUATE EDUCTION ORTHOPAEDIC OFF-SERVICE GOALS & OBJECTIVES

Beware! your mouse can bite your hand!

THORACIC OUTLET SYNDROME

News. Report from Cypress: The Discovery of Protomyonecrosis

National Medical Policy

Disorders of Muscles: The Myopathies

Symptoms and Signs of Irritation of the Brachial Plexus in Whiplash Injuries

Sign up to receive ATOTW weekly - worldanaesthesia@mac.com

Current Diagnosis Codes

ICD-9-CM coding for patients with Spinal Cord Injury*

Neuromuscular disorders in children

CUMMULATIVE DISORDERS OF UPPER EXTIMITY DR HABIBOLLAHI

Gait. Maturation of Gait Beginning ambulation ( Infant s gait ) Upper Limb. Lower Limb

Pediatric Neuromuscular Disorders: Transitions to Adult Providers

Ulnar Neuropathy Differential Diagnosis and Prognosis. Disclosures: None

Proximal border = palmar wrist crease Distal border = Kaplan + ring finger axis

Hemiplegic shoulder pain/shoulder subluxation

UBC Pain Medicine Residency Program: CanMEDS Goals and Objectives of the Neurology Rotation

Upper Limb QUESTIONS UPPER LIMB: QUESTIONS

Common Regional Nerve Blocks Quick Guide developed by UWHC Acute Pain Service Jan 2011

Top 50 ICD-10-Codes Description ICD-9-CM Code ICD-10-CM Code

Extended Disability Income. Fixed cease age. Extended Disability Income. Whole Life UP TO 24 MONTHS. Pre-retirement.

Transcription:

PART 2. ELECTRODIAGNOSTIC DIFFERENTIAL DIAGNOSIS OF COMMON SYMPTOMS AND SIGNS 1. PAIN FACIAL PAIN " lesion of the trigeminal nerve " trigeminal neuralgia " facial nerve lesion NECK PAIN " C5 radiculopathy " C6 radiculopathy " C7 radiculopathy " Th1 radiculopathy " C4 radiculopathy SHOULDER PAIN " suprascapular nerve lesion " axillary nerve lesion " long thoracic nerve lesion " accessory nerve lesion ACUTE PAIN IN THE ARM " anterior interosseus nerve lesion " C6 radiculopathy " C7 radiculopathy HIP PAIN " femoral nerve lesion " lumbal plexus lesion " lumbosacral plexus lesion " L1 radiculopathy " L2 radiculopathy " iliohypogastric nerve lesion LOW BACK PAIN " L4 radiculopathy " L5 radiculopathy " S1 radiculopathy " multiple radiculopathies L5 and/or S1 in spinal stenosis " L1 radiculopathy " L2 radiculopathy " L3 radiculopathy PAIN IN THE GROIN AND ANTERIOR PART OF THE THIGH " lateral cutaneous femoral nerve lesion " femoral nerve lesion " L3 radiculopathy " ilioinguinal nerve lesion " iliohypogastric nerve lesion " genitofemoral nerve lesion " L1 radiculopathy " L2 radiculopathy

PAINFUL FOOT 2 " Morton s metatarsalgia " tarsal tunnel syndrome MUSCLE PAIN (MYALGIA) " polymyalgia rheumatica " fibromyalgia " proximal myotonic myopathy (PROMM) " myophosphorylase deficiency (McArdle s disease, glycogenosis type 5) " phosphofructokinase deficiency (Tarui s disease, glycogenosis type 7) " lactate dehydrogenase deficiency (glycogenosis type 11) " myoadenylate deaminase deficiency " carnitine palmitoyl transferase deficiency 2. PARESTHESIAS NUMBNESS OF THE FACE " trigeminal nerve lesion " inferior alveolar nerve lesion NUMBNESS OF THE ULNAR FINGERS (DIGITS 4-5) " ulnar nerve lesion at the medial epicondyle " ulnar nerve lesion in the cubital tunnel " ulnar nerve lesion at the wrist " superficial sensory branch of the ulnar nerve lesion at the wrist " spinal cord lesion at the C8 level NUMBNESS OF THE RADIAL FINGERS (DIGITS 1-3(4)) " carpal tunnel syndrome " C6 radiculopathy " C7 radiculopathy " median nerve lesion above the wrist " lesion of the sensory radial nerve the forearm " median nerve lesion at the elbow " median nerve lesion above the elbow NUMBNESS OF FINGERS (PATIENT IS NOT ABLE TO TELL EXACTLY WHCHI FINGERS ARE NUMB) " carpal tunnel syndrome " C7 radiculopathy " ulnar nerve lesion in the cubital tunnel " ulnar nerve lesion at the medial epicondyle " axonal sensory motor polyneuropathy " demyelinating sensory motor polyneuropathy " median nerve lesion above the wrist " median nerve lesion at the elbow " median nerve lesion above the elbow (Struther's ligament) " lesion of the sensory radial nerve the forearm " ulnar nerve lesion at the wrist " superficial sensory branch of the ulnar nerve lesion at the wrist NUMBNESS OF THE LATERAL SIDE OF THE FOREARM " C6 radiculopathy " musculocutaneous nerve lesion NUMBNESS OF THE ANTERIOR OR LATERAL PART OF THE THIGH " lesion of the lateral cutaneous nerve of the thigh ( meralgia paresthetica ) " L2 radiculopathy " L3 radiculopathy

" femoral nerve lesion 3 BILATERAL NUMBNESS IN THE FEET " axonal sensory-motor polyneuropathy " demyelinating sensory motor polyneuropathy " bilateral L5 radiculopathy " bilateral S1 radiculopathy " bilateral Morton s metatarsalgia " chronic polyradiculitis " hereditary sensory and motor polyneuropathy type 1 " hereditary sensory and motor polyneuropathy type 2 " hereditary sensory and motor polyneuropathy type 3 " hereditary sensory and motor polyneuropathy type 4 " hereditary neuropathy with liability to pressure palsies (HNPP) " sensory axonal polyneuropathy " hereditary sensory polyneuropathy type 1 " hereditary sensory polyneuropathy type 2 " hereditary sensory polyneuropathy type 3 " hereditary sensory polyneuropathy type 4 " critical illness polyneuropathy " myelopathy " cervical spinal stenosis " multiple sclerosis " Friedreich s ataxia UNILATERAL NUMBNESS OF THE FEET " L5 radiculopathy " S1 radiculopathy " Morton s metatarsalgia " sural nerve lesion at the malleolus " sural nerve lesion in the calf " multiple sclerosis DIFFUSE DISTAL SENSORY LOSS " axonal sensory-motor polyneuropathy " demyelinating sensory motor polyneuropathy " chronic polyradiculitis " myelopathy " multiple sclerosis " Friedreich s ataxia " hereditary motor and sensory neuropathy type 1 (HMSN1, Charcot-Marie-Tooth) " hereditary motor and sensor neuropathy type 2 (HMSN2, Charcot-Marie-Tooth) " hereditary motor and sensory neuropathy type 3 (HMSN3, Dejerine-Šottas) " hereditary motor and sensory neuropathy type 4 (HMSN4, Mb Refsum) " sensory axonal polyneuropathy " hereditary sensory polyneuropathy type 1 " hereditary sensory polyneuropathy type 2 " hereditary sensory polyneuropathy type 3 " hereditary sensory polyneuropathy type 4 3. FOCAL MUSCLE WEAKNESS PTOSIS " familial progressive external ophtalmoplegia (PEO) syndrome " oculomotor nerve lesion " oculopharyngeal muscular dystrophy " congenital acetycholinereceptor (AChrR) deficiency " familial infantile myasthenia " Miller Fisher syndrome " Th1 radiculopathy " centronuclear myopathy (myotubular myopathy) neonatal form " centronuclear myopathy (myotubular myopathy) late infantile childhood form " multicore disease " minicore disease

" Kearns-Sayre syndrome " late onset mitochondrial myopathy 4 EXTERNAL OPHTALMOPLEGIA " oculopharyngeal muscular dystrophy " oculomotor nerve lesion " trochlear nerve lesion " abducens nerve lesion " Miller-Fisher syndrome " familial progressive external ophtalmoplegia (PEO) syndrome " centronuclear myopathy (myotubular myopathy) neonatal form " centronuclear myopathy (myotubular myopathy) late infantile childhood form " centronuclear myopathy (myotubular myopathy) late childhood-adult form " multicore disease " Kearns-Sayre syndrome FACIAL WEAKNESS " facial nerve lesion (Bell s palsy) " familial progressive external ophtalmoplegia (PEO) syndrome " Miller-Fisher syndrome " facio-scapulo-humeral muscular dystrophy " congenital facial palsy " bulbar hereditary motor neuronopathy (Fazio-Londe s disease) " progressive spinal muscular atrophy (Aran-Duchenne) " centronuclear myopathy (myotubular myopathy) late childhood-adult form DYSPHONIA, DYSARTHRIA AND/OR DYSPHAGIA " oculopharyngeal muscular dystrophy " recurrent nerve lesion " diphtheria " inclusion body myositis " Friedreich s ataxia " spasmodic dysphonia " centronuclear myopathy (myotubular myopathy) neonatal form WINGING OF THE SCAPULA " long thoracic nerve lesion " dorsal scapular nerve lesion " accessory nerve lesion " facio-scapulo-humeral muscular dystrophy WEAKNESS OF UPPER ARM ABDUCTION " axillary nerve lesion " suprascapular nerve lesion " C5 radiculopathy " C6 radiculopathy " accessory nerve lesion " facio-scapulo-humeral muscular dystrophy " limb-girdle muscular dystrophy

WEAKNESS OF WRIST EXTENSION 5 " radial nerve lesion in the upper arm " radial nerve lesion in the axilla " late onset distal myopathy type 1 (Welander type) WEAKNESS OF FINGER EXTENSION Note if there is weakness of wrist extension as well, see above, weakness of wrist extension " posterior interosseus nerve lesion " radial nerve lesion in the axilla " late onset distal myopathy type 1 (Welander type) WEAKNESS OF DISTAL HAND MUSCLES " axonal sensory motor polyneuropathy " demyelinating sensory motor polyneuropathy " C7 radiculopathy " Th1 radiculopathy " hereditary motor and sensory neuropathy type 1 (HMSN1, Charcot-Marie-Tooth) " hereditary motor and sensor neuropathy type 2 (HMSN2, Charcot-Marie-Tooth) " hereditary motor and sensory neuropathy type 3 (HMSN3, Dejerine-Šottas) " hereditary motor and sensory neuropathy type 4 (HMSN4, Mb Refsum) " hereditary neuropathy with liability to pressure palsies (HNPP) " late onset distal myopathy type 1 (Welander type) WEAKNESS OF THE THUMB " anterior interosseus nerve lesion " late onset distal myopathy type 1 (Welander type) WEAKNESS OF THE KNEE EXTENSION " femoral nerve lesion " L2 radiculopathy " L3 radiculopathy " L4 radiculopathy " lumbal plexus lesion " lumbosacral plexus lesion " Becker muscular dystrophy " inclusion body myositis

WEAKNESS OF THE ANKLE EXTENSION, DROPFOOT 6 " L5 radiculopathy " common peroneal nerve lesion at the knee " sciatic nerve lesion " lumbosacral plexus lesion " axonal sensory-motor polyneuropathy " demyelinating sensory-motor polyneuropathy " late onset distal myopathy type 1 (Welander type) " tibial muscular dystrophy " distal spinal muscular atrophy " rupture of m.tibialis anterior tendon WEAKNESS OF THE ANKLE FLEXION " S1 radiculopathy " sciatic nerve lesion " lumbosacral plexus lesion " axonal sensory-motor polyneuropathy " demyelinating sensory-motor polyneuropathy " late onset distal myopathy type 1 (Welander type) " early adult onset distal myopathy type 2 (Mioshi) 4. GENERALIZED MUSCLE WEAKNESS AND FATIGUABILITY SYMMETRIC GENERALIZED WEAKNESS Neuromuscular transmission disorders " myasthenic syndrome " slow channel syndrome " congenital acetylcholine receptor deficiency myasthenia " familial infantile myasthenia " limb-girdle myasthenia syndrome " botulinus intoxication Myopathies " inclusion body myositis " Duchenne muscular dystophy " Becker muscular dystrophy " Emery-Dreifuss muscular dystrophy " limb-girdle muscular dystrophy " Fukuyama congenital muscular dystrophy " Walker-Warburg syndrome " muscle eye brain disease " congenital muscular dystrophy with merosin deficiency " congenital muscular dystrophy with normal merosin " nemaline myopathy " centronuclear myopathy (myotubular myopathy) neonatal form " centronuclear myopathy (myotubular myopathy) late infantile childhood form " branching enzyme deficiency (glycogenosis type 4) Spinal muscular atrophies and motor neuronopathies " spinal muscular atrophy 1, Werdnig-Hoffman " spinal muscular atrophy 2, intermediate " spinal muscular atrophy 3, Kugelberg-Welander " X-linked bulbospinal hereditary neuronopathy (Kennedy syndrome) " progressive spinal muscular atrophy (Aran-Duchenne)

7 SYMMETRIC WEAKNESS OF MAINLY PROXIMAL MUSCLES Neuromuscular transmission disorders (MG) " myasthenic syndrome ( Lambert-Eaton myasthenic syndrome, LEMS) " slow channel syndrome " congenital acetycholinereceptor (AcR) deficiency " congenital myasthenia " botulinus intoxication Myopathies " inclusion body myositis " Duchenne muscular dystophy " Becker muscular dystrophy " Emery-Dreifuss muscular dystrophy " limb-girdle muscular dystrophy " proximal myotonic myopathy (PROMM) " primary adhalinopathy " central core disease " nemaline myopathy " centronuclear myopathy (myotubular myopathy) late childhood adult form " multicore disease " minicore disease " fingerprint body myopathy " hyaline body myopathy " myoclonic epilepsy with ragged red fibers (MERFF) " benign infantile myopathy with cytochrome C oxidase deficiency (complex IV deficiency) " familial progressive external ophtalmoplegia (PEO) syndrome " late onset mitochondrial myopathy " acid maltase deficiency (Pompe s disease, glycogenosis type 2) " debranching enzyme deficiency (glycogenosis type 3) " myophosphorylase deficiency (McArdle's disease) " phosphoglycerate kinase deficiency (glycogenosis type 9) " phosphoglycerate mutase deficiency (glycogenosis type 10) " carnitine deficiency Spinal muscular atrophies and motor neuronopathies " spinal muscular atrophy 1, Werdnig-Hoffman " spinal muscular atrophy 2, intermediate " spinal muscular atrophy 3, Kugelberg-Welander " X-linked bulbospinal hereditary neuronopathy (Kennedy syndrome) " progressive spinal muscular atrophy (Aran-Duchenne) SYMMETRIC WEAKNESS OF MAINLY DISTAL MUSCLES " axonal sensory-motor polyneuropathy " demyelinating sensory motor polyneuropathy (Guillan-Barré Syndrome, GBS) " acute motor axonal neuropathy " hereditary motor and sensory neuropathy type 1 (HMSN1, Charcot-Marie-Tooth) " hereditary motor and sensor neuropathy type 2 (HMSN2, Charcot-Marie-Tooth) " hereditary neuropathy with liability to pressure palsies (HNPP) " chronic polyradiculitis " hereditary motor and sensory neuropathy type 3 (HMSN3, Dejerine-Šottas) " hereditary motor and sensory neuropathy type 4 (HMSN4, Mb Refsum) " distal spinal muscular atrophy " myasthenic syndrome " late onset distal myopathy type 1 (Welander) " early adult onset distal myopathy type 2 (Miyoshi) " tibial muscular dystrophy " progressive spinal muscular atrophy (Aran-Duchenne)

SCAPULO PERONEAL MUSCLE WEAKNESS 8 " facio-scapulo-humeral muscular dystrophy WEAKNESS WITH RANDOM DISTRIBUTION " progressive spinal muscular atrophy (Aran-Duchenne) " facio-scapulo-humeral muscular dystrophy (FSHD) ACUTE MUSCLE WEAKNESS (WITHIN DAYS) " critical illness polyneuropathy " botulinus intoxication EPISODIC, REVERSIBLE MUSCLE WEAKNESS " hypokalemic periodic paralysis " hyperkalemic periodic paralysis " paramyotonia congenita MYOGLOBINURIA " carnitine palmitoyl transferase deficiency " myophosphorylase deficiency (McArdle s disease) " phosphofructokinase deficiency (Tarui s disease, glycogenosis type 7) " phosphorylase b deficiency " myophosphorylase deficiency (McArdle's disease) " malignant hyperthermia " succinate dehydrogenase deficiency (complex II deficiency) " myophosphorylase deficiency (McArdle s disease, glycogenosis type 5) " phosphofructokinase deficiency (Tarui s disease, glycogenosis type 7) " phosphoglycerate kinase deficiency (glycogenosis type 9) " phosphoglycerate mutase deficiency (glycogenosis type 10) " lactate dehydrogenase deficiency (glycogenosis type 11) " excessive exercise " delirium tremens " neuroleptic malignant syndrome " compression by heavy objects " compression of own weight on muscles (coma) " vascular insults of muscles no link " alcohol " cocaine, heroin, amphetamines " neuroleptics " hypokalemia " hypophosphatemia RHABDOMYOLYSIS " type 7 glycogenosis (phosphofructokinase deficiency) " myophosphorylase deficiency " lactate dehydrogenase deficiency " phosphorylase b deficiency " myophosphorylase deficiency (McArdle's disease) " carnitine palmitoyl transferase deficiency " malignant hyperthermia " succinate dehydrogenase deficiency (complex II deficiency) " phosphoglycerate kinase deficiency (glycogenosis type 9) " phosphoglycerate mutase deficiency (glycogenosis type 10) " excessive exercise " delirium tremens " neuroleptic malignant syndrome " compression by heavy objects " compression of own weight on muscles (coma) " vascular insults of muscles no link " alcohol

" cocaine, heroin, amphetamines " neuroleptics " hypokalemia " hypophosphatemia FLOPPY INFANT Spinal muscular atrophies and motor neuronopathies " spinal muscular atrophy 1 (Werdnig-Hoffman) Polyneuropathies " hereditary sensory neuropathy type 2 " hereditary sensory neuropathy type 3 " hereditary sensory neuropathy type 4 Myopathies " Fukuyama congenital muscular dystrophy " Walker-Warburg syndrome " muscle eye brain disease " fatal infantile myopathy with cytochrome C oxidase deficiency (complex IV deficiency) " benign infantile myopathy with cytochrome C oxidase deficiency (complex IV deficiency) " congenital muscular dystrophy with merosin deficiency " congenital muscular dystrophy with normal merosin " congenital myotonic dystrophy " central core disease " nemaline myopathy " centronuclear myopathy (myotubular myopathyneonatal form " centronuclear myopathy (myotubular myopathy) late infantile childhood form " multicore disease " fingerprint body myopathy " sarcotubular myopathy " acid maltase deficiency (Pompe s disease, glycogenosis type 2) " debranching enzyme deficiency (glycogenosis type 3) " branching enzyme deficiency (glycogenosis type 4) " carnitine deficiency " hyaline body myopathy " benign infantile myopathy with cytochrome c oxidase deficiency " fatal infantile myopathy with cytochrome c oxidase deficiency Neuromuscular transmission disorders " neonatal myasthenia gravis " slow channel syndrome " congenital acetylcholine receptor deficiency " familial infantile myasthenia " congenital endplate acetylcholinesterase deficiency " fatal infantile myopathy with cytochrome C oxidase deficiency (complex IV deficiency) " benign infantile myopathy with cytochrome C oxidase deficiency (complex IV deficiency) " botulinus intoxication " hereditary sensory neuropathy type 2 " hereditary sensory neuropathy type 3 " hereditary sensory neuropathy type 4 9 MALIGNANT HYPERTERMIA " malignant hypertermia " multicore disease " minicore disease " central core disease MUSCLE FATIGUE (patients usually complain of fluctuating g muscle weakness rather than fatiguability) " myasthenic syndrome " slow channel syndrome " congenital acetycholinereceptor (AcR) deficiency " familial infantile myasthenia " Congenital endplate acetylcholine esterase deficiency (Limb-Girdle myasthenia) " myophosphorylase deficiency (McArdle's disease) " phosphofructokinase deficiency (Tarui s disease, glycogenosis type 7) " phosphoglycerate kinase deficiency (glycogenosis type 9) " phosphoglycerate mutase deficiency (glycogenosis type 10) " lactate dehydrogenase deficiency (glycogenosis type 11) EXERCISE INTOLERANCE " phophofructokinase deficiency " phosphoglycerylate mutase deficiency " phosphorylase b kinase deficiency " carnitine palmitoyl transferase deficiency " mitochondrial myopathies " myoadenylate deaminase deficiency

" succinate dehydrogenase deficiency (complex II deficiency) " myophosphorylase deficiency (McArdle s disease, glycogenosis type 5) " phosphofructokinase deficiency (Tarui s disease, glycogenosis type 7) " phosphoglycerate kinase deficiency (glycogenosis type 9) " phosphoglycerate mutase deficiency (glycogenosis type 10) " lactate dehydrogenase deficiency (glycogenosis type 11) 10 5.MUSCLE ATROPHY AND HYPERTROPHY ATROPHY OF BULBAR MUSCLES " chronic polyradiculitis " bulbar hereditary motor sensory neuronopathy (Fazio-Londe s disease) ATROPHY OF SHOULDER MUSCLES " acessory nerve lesion " axillary nerve lesion " suprascapular nerve lesion " rotator cuff rupture ATROPHY OF THE UPPER ARM MUSCLES " Emery-Dreifuss muscular dystrophy " musculocutaneous nerve lesion " C6 radiculopathy " C7 radiculopathy ATROPHY OF INTRINSIC HAND MUSCLES " ulnar nerve lesion in the cubital tunnel " ulnar nerve lesion at the medial epicondyle " ulnar nerve lesion at the wrist " deep motor branch of the ulnar nerve lesion at the wrist " spinal cord lesion at C8-Th1 level " syringomyelia C8-Th1 " monomelic spinal muscular atrophy " motor neuropathy with multifocal conduction block (MMN) " axonal sensory-motor polyneuropathy " demyelinating sensory-motor polyneuropathy " chronic polyradiculitis " hereditary sensory and motor neuropathy type 1 " hereditary sensory and motor neuropathy type 2 " hereditary sensory and motor neuropathy type 3 " lead intoxication " Dapsone intoxication " distal spinal muscular atrophy " late onset distal myopathy type 1 (Welander) ATROPHY OF THENAR MUSCLES " carpal tunnel syndrome (CTS) " median nerve above the wrist " median nerve lesion below the elbow " median nerve lesion at the elbow " Th1 radiculopathy " motor neuropathy with multifocal conduction block (MMN) " spinal cord lesion at the C8 level " syringomyelia

" monomelic spinal muscular atrophy " late onset distal myopathy type 1 (Welander) 11 ATROPHY OF CALF MUSCLES " S1 radiculopathy " sciatic nerve lesion " tibial nerve lesion " early adult onset distal myopathy type 2 (Mioshi) ATROPHY OF INTRINSIC FOOT MUSCLES " motor neuropathy with multifocal conduction block (MMN) " axonal sensory-motor polyneuropathy " demyelinating sensory-motor polyneuropathy " chronic polyradiculitis " hereditary sensory and motor neuropathy type 1 " hereditary sensory and motor neuropathy type 2 " hereditary sensory and motor neuropathy type 3 " late onset distal myopathy type 1 (Welander) " early adult onset distal myopathy type 2 (Mioshi) " distal spinal muscular atrophy " normal aging ATROPHY OF PROXIMAL MUSCLES Myopathies " inclusion body myositis " Duchenne muscular dystophy " Becker muscular dystrophy " Emery-Dreifuss muscular dystrophy " limb-girdle muscular dystrophy " congenital muscular dystrophy Spinal muscular atrophies and motor neuronopathies " spinal muscular atrophy 1, Werdnig-Hoffman " spinal muscular atrophy 2, intermediate " spinal muscular atrophy 3, Kugelberg-Welander " X-linked bulbospinal hereditary neuronopathy (Kennedy syndrome) GENERALIZED MUSCLE HYPERTROPHY " athletes " myotonia congenita (Thomsen s form) " hypothyroidism HYPERTROPHY OF CALF MUSCLES " Becker muscular dystrophy " Duchenne muscular dystrophy " limb-girdle muscular dystrophy " sciatic nerve lesions HYPERTROPHY OF NECK MUSCLES " spasmodic torticollis HYPERTROPHY OF THE TONGUE " acromegaly 6. DEFORMITY

CLAW-HAND 12 " ulnar nerve lesion in the cubital tunnel " ulnar nerve lesion at the medial epicondyle " ulnar nerve lesion at the wrist " ulnar nerve lesion at the wrist " spinal cord lesion at the C8 level PES CAVUS DEFORMITY (FRIEDREICH S FOOT) " hereditary motor and sensory neuropathy type 1 (HMSN1, Charcot-Marie-Tooth) " hereditary motor and sensor neuropathy type 2 (HMSN2, Charcot-Marie-Tooth) " hereditary motor and sensory neuropathy type 3 (HMSN3, Dejerine-Šottas) " hereditary motor and sensory neuropathy type 4 (HMSN4, Mb Refsum) " hereditary neuropathy with liability to pressure palsies (HNPP) " Friedreich s ataxia CLUBFOOT " multicore disease " congenital myotonic dystrophy ARTHROGRYPOSIS " congenital myotonic dystrophy " spinal muscular atrophy type 1 " hereditary sensory and motor neuropathy type 3 " neonatal myasthenia gravis " congenital muscular dystrophy " nemaline myopathy " centronuclear myopathy (myotubular myopathy), neonatal form " disorders of the central nervous system " Potter s syndrome (oligohydramnion, renal agenesis) " trisomy of chromosome 18 7. MYOTONIA, MUSCLE STIFFNESS, CRAMPS AND MUSCLE TWITCHING MYOTONIA " myotonia congenita (Thomsen s form) " myotonia congenita (Becker s form) " myotonia fluctuans " paramyotonia congenita " chondrodystrophic myotonia (Schwartz-Jampel syndrome) " hyperkalemic periodic paralysis " neuromyotonia " proximal myotonic dystrophy (PROMM) MUSCLE STIFFNESS AND ABNORMAL POSTURES " cervical dystonia " focal dystonia " extrapyramidal disorders " spasticity " neuromyotonia " rippling muscle disease " stiff man syndrome GENERALIZED FASCICULATION " progressive spinal muscular atrophy (Aran-Duchenne) " benign fasciculation " neuromyotonia " hypoparathyroidism

GENERALIZED MUSCLE CRAMPS 13 " progressive spinal muscular atrophy (Aran-Duchenne) " myophosphorylase deficiency (McArdle s disease, glycogenosis type 5) " rippling muscle disease " carnitine palmitoyl transferase deficiency 8. AUTONOMIC NEUROPATHY " botulinum intoxication " hereditary sensory polyneuropathy type 3 (Riley-Day syndrome) " hereditary sensory polyneuropathy type 4 ( congenital sensory neuropathy with anhidrosis) 9. LABORATORY FINDINGS SEVERELY ELEVATED CREATINE KINASE (CK) VALUE (>50 TIMES NORMAL) " rhabdomyolysis " Duchenne muscular dystrophy " Becker muscular dystrophy " early adult onset distal myopathy type 2 (Mioshi) LACK OF LACTATE ELEVATION IN RESPONSE TO EXERCISE " phosphoglycerate kinase deficiency (glycogenosis type 9) " phosphoglycerate mutase deficiency (glycogenosis type 10) " lactate dehydrogenase deficiency (glycogenosis type 11) SERUM LACTATE ELEVATED " mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS) " benign infantile myopathy with cytochrome C oxidase deficiency (complex IV deficiency) " familial progressive external ophtalmoplegia (PEO) syndrome "