Miasthenia gravis The Anatomy of the Neuromuscular Junction

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Miasthenia gravis

Miasthenia gravis

The Anatomy of the Neuromuscular Junction n n Motor neurone terminates as a bouton

The Anatomy of the Neuromuscular Junction n n Motor neurone terminates as a bouton or presynaptic nerve terminal separated from the muscle by a thin synaptic cleft (Motor endplate) The blood nerve barrier is relatively deficient at the NMJ (neuromuscular junction) Nerve and muscle are kept in close proximity by bridging protein (laminin), with release zones and the crests of post synaptic folds aligned The skeletal neuromuscular junction is the most studied and best understood synapse

Healthy Neuromuscular Junction

Healthy Neuromuscular Junction

The Physiology of Neuromuscular transmission n n Neuronal Action potential invades the pre-synaptic nerve

The Physiology of Neuromuscular transmission n n Neuronal Action potential invades the pre-synaptic nerve terminal Depolarisation triggers opening of VGCCs (voltage gate calcium channels) Calcium influx triggers quantal release of ACh (acetil -choline) ACh binds to post synaptic n. ACh. Rs (acetil choline receptor) Ca and Na ions influx through n. ACh. R triggering muscle membrane depolarisation via VGSCs- CMAP and muscle contraction (voltage gate sodium channels - compund muscle action potential )

Spontaneous and Nerve Evoked Endplate Responses

Spontaneous and Nerve Evoked Endplate Responses

Myasthenia Gravis (MG) n n n MG is the most common disorder of neuromuscular

Myasthenia Gravis (MG) n n n MG is the most common disorder of neuromuscular transmission Incidence 2 -6 per 106 , prevalence 40 per 106 population MG is an acquired autoimmune disease characterised by the formation of anti- n. ACh. R antibodies MG is common in young women, and older men MG is characterized by fluctuating and fatigable weakness Weakness may be limited to a few muscles, such as the extraocular muscles, bulbar, limb or be generalised in fashion n As the weakness is often worse with activity and improved by rest, it is often worse in the evening

Myasthenia Gravis (MG) n Ocular features: ptosis, diplopia, ophthalmoplegia n Facial weakness esp ob

Myasthenia Gravis (MG) n Ocular features: ptosis, diplopia, ophthalmoplegia n Facial weakness esp ob oculi and oris (snarl) n Bulbar weakness: nasal speech, reduced gag, swallowing problems, aspiration (silent), weak neck (dropped) n Limb weakness: proximal, fatiguable n Reflexes: normal n Respiratory weakness: diaphragm and intercostal Fatigue (palpebral ptosis) in MG

Myasthenia Gravis (MG) n MG is a defect of neuromuscular transmission with n reduced

Myasthenia Gravis (MG) n MG is a defect of neuromuscular transmission with n reduced efficacy of Acetyl Choline at the post synaptic motor endplate due to pathogenic antibodies which Block the n. ACh. R, n Down regulate the n. ACh. R n & cause complement dependent destruction of the motor endplate n

Myasthenia Gravis (MG) n n n The immunopathogenesis of MG is unclear but involves

Myasthenia Gravis (MG) n n n The immunopathogenesis of MG is unclear but involves Genetic factors (HLA B 8) Thymus n n Vast majority of young onset cases are autoimmune and associated with thymic hyperplasia Around 10% of patients with MG, often older patients) have an associated thymic tumour (oft striated muscle Abs) Seronegative (10% gen, 50% OMG) Neonatal MG

Myasthenia Gravis (MG) n Diagnosis n n Typical clinical picture Detection of anti-ACh. R

Myasthenia Gravis (MG) n Diagnosis n n Typical clinical picture Detection of anti-ACh. R antibodies in serum (90%) Positive Tensilon test (atropine) Repeptitive nerve stimulation at low frequency leads to a decrement in compound muscle action potential amplitude Tensilon test – before and after Single fiber EMG – normal Single fiber EMG – increased jitter

Repetitive Nerve Stimulation (Supramaximal 2 Hz)

Repetitive Nerve Stimulation (Supramaximal 2 Hz)

Myasthenia Gravis (MG) n Treatment n n Symptomatic (pyridostigmine often with propantheline) Thymectomy n

Myasthenia Gravis (MG) n Treatment n n Symptomatic (pyridostigmine often with propantheline) Thymectomy n n n Hyperplasia (trans-sternal approach), Thymoma (locally invasive) Immunotherapy n n n steroids, and other agents including Azathioprine plasma exchange, IVIG

Lambert Eaton Myasthenic syndrome (LEMS) n n n A defect of neuromuscular transmission with

Lambert Eaton Myasthenic syndrome (LEMS) n n n A defect of neuromuscular transmission with reduced quantal release of Acetyl Choline from the presynaptic nerve terminal Pathogenic antibodies directed against voltage gated calcium channels (VGCCS) expressed at the NMJ and autonomic ganglia 2/3 patients with LEMS have cancer, most commonly Small cell lung Ca (express VGCCs)

Lambert Eaton Myasthenic syndrome (LEMS) n Clinical features Dry mouth n Fatigable weakness of

Lambert Eaton Myasthenic syndrome (LEMS) n Clinical features Dry mouth n Fatigable weakness of proximal muscles (like MG) n Wasting of proximal muscles n Depressed reflexes n Ocular and bulbar weakness rare n

Lambert Eaton Myasthenic syndrome (LEMS) n Diagnosis n n n Typical clinical picture Detection

Lambert Eaton Myasthenic syndrome (LEMS) n Diagnosis n n n Typical clinical picture Detection of anti-VGCC antibodies in serum Positive Tensilon test (like MG) Repeptitive nerve stimulation at low frequency leads to a decrement in compound muscle action potential amplitude (like MG) Repeptitive nerve stimulation at high frequency leads to a increment in compound muscle action potential amplitude (X MG)

Repetitive Nerve Stimulation (Supramaximal 2 Hz)

Repetitive Nerve Stimulation (Supramaximal 2 Hz)

Lambert Eaton Myasthenic syndrome (LEMS) n Treatment Treating the underlying lung tumour improves LEMS

Lambert Eaton Myasthenic syndrome (LEMS) n Treatment Treating the underlying lung tumour improves LEMS n Treatment for LEMS per se n Symptomatic (mestinon, 3 -4 DAP) n Immunotherapy (steroids, plasma exchange, IVIG) n

POLYMYOSITIS DERMATOMYOSITIS

POLYMYOSITIS DERMATOMYOSITIS

CLASSIFICATION OF POLYMYOSITIS (PM) – DERMATOMYOSITIS (DM) n n n Group I: Primary Idiopathic

CLASSIFICATION OF POLYMYOSITIS (PM) – DERMATOMYOSITIS (DM) n n n Group I: Primary Idiopathic PM Group II: Primary Idiopathic DM Group III: DM or PM associated with neoplasia Group IV: Childhood DM or PM associated with vasculitis Group V: PM or DM with associated with collagen diseases

POLYMYOSITIS DERMATOMYOSITIS n n Onset age: Usually > 20 years Progression: weeks-months Possibly preceded

POLYMYOSITIS DERMATOMYOSITIS n n Onset age: Usually > 20 years Progression: weeks-months Possibly preceded by upper tract infection Other possible trigger factors: n n n Anti hepatitis B vaccination Growth hormone administration Drugs: penicilamine Viral infections: Coxsackie B; Parvovirus; Echovirus HLA n n Class II: antigens DQα 1*0501 (88%) For DM: DMA*0103 si DMB*0102

Clinical Picture n Muscle weakness n n n n Proximal > Distal Symmetric Frequently

Clinical Picture n Muscle weakness n n n n Proximal > Distal Symmetric Frequently starts at lower limbs Selective regions of weakness: eophagus (dysphagia); Posterior neck; Quadriceps Usually does not affect oculomotor muscles Amiotrophies occur late in the evolution Reflexes usually normal

Motor deficit n Most often proximal n n n n Distal: inclusion body myositis

Motor deficit n Most often proximal n n n n Distal: inclusion body myositis Lack of simmetry: inclusion body myositis cvadriceps: inclusion body myositis; PM with mitochondrial diseases Extraocular muscles: extraoculary myositis Swallowing : inclusion myositis, granulomatous myositis, scleroderma associated myositis Episodic: episodic miopathy with pipestem capilaries Acute: infectious;

Skin lesions (DM) n n Heliotrope rash - reddish violaceous eruption on upper eyelids

Skin lesions (DM) n n Heliotrope rash - reddish violaceous eruption on upper eyelids +/- oedema Diffuse/localised erythema over chest, neck, or over forehead, chin, malar area Gottron’s sign - symmetric violaceous erythematous eruption over knuckles Necrosis Gottron sign

Pain n n n Muscle pain n n 30%; Especially with associated connective tissue

Pain n n n Muscle pain n n 30%; Especially with associated connective tissue disease Rule out: Polymyalgia; Arthritis; Fasciitis; Rhabdomyolysis Associated with contraction, muscle mass compression or spontaneous pain Joint pain n n Arthrites or nondestructive arthralgia Anti-Jo 1 or Anti. ARNt synthethasys antibody syndromes

Associated disorders n n Cardiac: Arhythmias; Inflammatory cardiomyopathy Pulmonary: Respiratory muscle weakess; Interstitial lung

Associated disorders n n Cardiac: Arhythmias; Inflammatory cardiomyopathy Pulmonary: Respiratory muscle weakess; Interstitial lung disease Esophageal paresis: Upper 1/3 with muscle weakness, Lower 2/3 with scleroderma Abdominal pain: n n n Malignancy: Mild increased risk Autoimmune: Lupus, Sjoegren's, Anti-phospholipid antibodies & syndrome: 5% to 8% Thyrotoxicosis: Rare n n n Gastro-intestinal mucosal involvement Marked by ulceration, hemorrhages & perforation Due to associated vasculopathy High CK: CK in hyperthyroid is usually low May resolve with anti-thyroid medication alone Calcinosis (formation of calcium deposits in any soft tissue) in 1/3 of cases

Clinical forms (evolutive) n Acute: n n n Important motor deficit, fast prograssion, muscle

Clinical forms (evolutive) n Acute: n n n Important motor deficit, fast prograssion, muscle pain, fever, inflamation signs, myoglobinuria Possible death within weeks due to reapiratory destress, heart failure, kidney feilure Subacute Cronic Focal forms – rare; sometimes evoluate towards difuse type

Laboratory n n n Serum CK: High (3 to 30 times normal); elevated LDH,

Laboratory n n n Serum CK: High (3 to 30 times normal); elevated LDH, aldolase, AST, ALT General inflamation signs (CRP) EMG: Irritative myopathy Small amplitude, brief, polyphasic motor units n Fibrillations; Positive sharp waves n spontaneous high frequency discharges n n Antibodies: Disease specific & non-specific

EMG aspects Polyphasic action potentials with small amplitude, short duration Long duration positive sharp

EMG aspects Polyphasic action potentials with small amplitude, short duration Long duration positive sharp waves: Initial positive deflaction followed by a negative component Fibrilation: Short duration potentials (arrows) with positive and then negative component

Muscle biopsy n Myopathic n n Muscle fiber necrosis Variation in size of muscle

Muscle biopsy n Myopathic n n Muscle fiber necrosis Variation in size of muscle fibers Necrosis + phagocytosis & regeneration of muscle fibers Mild, patchy increase in endomysial connective tissue Inflammation n Endomysial & perivascular inflammatory (mononuclear) cells Macrophages & CD 8+ T-cells Focal invasion of non-necrotic muscle fibers MAC (complement) deposits at the surface of the muscle fibers

Differential diagnosis n n n Myasthenia Gravis Electrolyte disturbances Metabolic, endocrine or toxic myopathies

Differential diagnosis n n n Myasthenia Gravis Electrolyte disturbances Metabolic, endocrine or toxic myopathies Muscular dystrophy Guillain-Barre Syndrome

Tratament n Corticosteroids n Good response to treatment if: n n Poor response to

Tratament n Corticosteroids n Good response to treatment if: n n Poor response to therapy if: n n Clinical picture: proximal or diffuse motor deficit, disease duration <1 year; association with mialgia, cutaneous rash, connective tissue diseases Lab: very high serum CPK, anti Jo-1 antibodies Biopsy: perimisial inflammation, perifascicular atrophy, necrosis and regeneration Focal or asymetric motor deficit; acute or very slow form of evolution; family history Lab: normal or low seric CK Biopsy: focal invasion of muscle fibers by inflammatory cells; Prednisone 1 -2 mg/kg/day, tapered after strength improves and CK declines, often after 1 -3 months.

TREATMENT n Cytotoxic agents n n introduced if severe disease, relapsing disease, inadequate steroid

TREATMENT n Cytotoxic agents n n introduced if severe disease, relapsing disease, inadequate steroid response or steroid induced cx’s. Azathioprina or methotrexate used with steroids Cyclosporin, cyclophosphamide, tacrolimus and anti. TNF are alternatives. Intravenous immunoglobulin successful n n Child DM, esophageal dysfunction 1 gram/kg/day

Muscular Dystrophy

Muscular Dystrophy

What is Muscular Dystrophy? (MD) n Muscular Dystrophy: group of genetic disorders that are

What is Muscular Dystrophy? (MD) n Muscular Dystrophy: group of genetic disorders that are characterized by progressive loss of muscle integrity, wasting, and weakness. Characterized by degeneration and regeneration of muscle fibers (in contrast with static or structural myopathies)

History and Physical Exam in the Newborn and Office n History Newborn – floppy

History and Physical Exam in the Newborn and Office n History Newborn – floppy infant, term or preterm, poor head control, poor feeding, prolonged labor, maternal complications n Childhood development – delay in sitting, standing, walking, toe walking, difficulty stair climbing or running n Teen or adult – difficulty in self-care, swallowing, athletic/endurance activity n

n Family History n n Include enough of family tree to pick up autosomal

n Family History n n Include enough of family tree to pick up autosomal recessive disorders and X-linked or AD (autosomal dominant) disorders with variable penetrance Many x-linked or AD represent new mutations Past diagnoses in older family members may not be accurate Review of Systems n n n School functioning/cognitive development Cardiac function/arrhythmias/syncope Respiratory

n Physical exam findings Muscle mass: signs of wasting or hypertrophy/pseudohypertrophy n Muscle strength:

n Physical exam findings Muscle mass: signs of wasting or hypertrophy/pseudohypertrophy n Muscle strength: power – generation of force against resistance or gravity n Observe reaching, getting up from floor n Observe trunk and head/neck control n Test specific proximal groups – position so against gravity n n Tone: resistance to passive movement n Note hyper vs. hypotonia in weak areas Deep tendon reflexes: normal or decreased n Normal sensation: remember proprioception n Joint contracture: reduced passive range of motion not due to tone n

n n Dystrophinopathy: disorders involving dystrophin Duchenne MD and Becker MD are the muscular

n n Dystrophinopathy: disorders involving dystrophin Duchenne MD and Becker MD are the muscular disorders – the two most common and severe dystrophies Dystrophin is a very large gene on the X-chromosome, ubiquitous in the human body Dystrophin-Associated Protein (DAP) Complex – composed of the extracellular, transmembrane, and intracellular components

General Diagnostic Testing n Creatine kinase : Aids in narrowing the differential diagnosis if

General Diagnostic Testing n Creatine kinase : Aids in narrowing the differential diagnosis if greatly elevated (50 times normal) n Increased in Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, polymyositis, and rhabdomyolysis n Nonspecific if mildly elevated 2 -3 x normal n Lower late in MD course due to severely reduced muscle mass n Not helpful for carrier detection n

n Muscle biopsy Dystrophic changes include necrosis, degeneration, regeneration, fibrosis and fatty infiltration, sometimes

n Muscle biopsy Dystrophic changes include necrosis, degeneration, regeneration, fibrosis and fatty infiltration, sometimes mild inflammation n Specific diseases may have inflammation, intracellular vacuoles, rods, and other inclusions on biopsy n n Biochemical muscle protein analysis Useful for specific identified protein that is missing and many specific mutations may cause the same deficiency n Immunohistochemical protein staining n Western blot – quantitates percent of normal protein present n

n Genetic analysis n n n PCR for specific known defects Southern blot for

n Genetic analysis n n n PCR for specific known defects Southern blot for nucleotide repeats Electromyography n n Useful if diagnosis not clear (biopsy has mixed features) Differentiates neuropathic vs. myopathic Characteristic myotonic discharges in adults with myotonia – “dive bomber” sound Perform after the CK

Duchenne Muscular Dystrophy n n n Presentation: 3 -5 y/o with pseudohypertrophy of calf

Duchenne Muscular Dystrophy n n n Presentation: 3 -5 y/o with pseudohypertrophy of calf muscles, frequent falls, slow running, and waddling gait Prevalence of 1: 3500 Other organs affected n n Heart – cardiomyopathy Respiratory Intellect - 30 % with impairment IQ <75 Testing n n Immunostaining with absence of dystrophin PCR testing available for common mutations (X 21. 2)

Becker Muscular Dystrophy n n n Slowly progressive form with same gene affected as

Becker Muscular Dystrophy n n n Slowly progressive form with same gene affected as Duchenne MD Muscle biopsy immunostaining for dystrophin with patchy staining Disorder of function or decreased amount of dystrophin rather than absence of the protein

Congenital Muscular Dystrophy n n Presentation: neonatal onset of severe weakness, delayed motor milestones,

Congenital Muscular Dystrophy n n Presentation: neonatal onset of severe weakness, delayed motor milestones, contractures Merosin negative/CMD A 1 n n White matter hypodensities on brain scan but normal mental capacity Diagnosis by muscle biopsy immunohistochemistry showing loss of α 2 laminin (AR-chromosome 6 q 22 -23)

Fascio. Scapular. Humeral Muscular Dystrophy Presentation: n n Facial weakness with trouble blowing up

Fascio. Scapular. Humeral Muscular Dystrophy Presentation: n n Facial weakness with trouble blowing up a balloon, sipping through a straw, whistling, trouble closing the eyes at night, scapular winging that may be asymmetric, pain May have absence of pectoralis, biceps, or brachioradialis Also affected: mild high pitched hearing loss, retinal abnormalities, mental retardation in early onset Genetics/Testing n n n Southern blot testing available (chromosome 4 q 35) for decrease in repeats normally present Muscle biopsy may show lymphocytic infiltrates

Limb Girdle Muscular Dystrophy n n Presentation: variable age of onset with weakness and

Limb Girdle Muscular Dystrophy n n Presentation: variable age of onset with weakness and wasting of the limb-girdle May have calf hypertrophy, involvement of scapular muscle and deltoid in sarcoglycanopathies Many types involve dysfunctional sarcoglycans – transmembrane proteins of the DAP that interact with cytoplasmic proteins Table 2 – types of LGMD

Oculopharyngeal Muscular Dystrophy Presentation: mid-adult with ptosis, facial muscle weakness with difficulty swallowing, proximal

Oculopharyngeal Muscular Dystrophy Presentation: mid-adult with ptosis, facial muscle weakness with difficulty swallowing, proximal muscle weakness, may have extraocular muscle weakness, more common in French-Canadian and Hispanic population Genetics n n Muscle biopsy shows filamentous nuclear inclusions and ubiquitin containing vacuoles Affects poly A binding protein 2 (PABP 2) by expansion of a GCG repeat without anticipation seen – Southern blot (chromosome 14 q 11 -13)

Emery-Dreifuss Muscular Dystrophy Scapuloperoneal MD n n Presentation: stiff joints, shoulder and upper arm

Emery-Dreifuss Muscular Dystrophy Scapuloperoneal MD n n Presentation: stiff joints, shoulder and upper arm weakness, calf weakness, cardiac conduction defects and arrhythmias, contractures Genetics n X-linked type affects emerin n n Diagnose by protein analysis of leukocytes or skin fibroblasts DNA testing available (chromosome Xq 28) AD affects lamin A or lamin C (chromosome 1 q 21) Nuclear membrane proteins

Myopathies n Central core disease: n n n Myotubular myopathy n n Myotubularin, important

Myopathies n Central core disease: n n n Myotubular myopathy n n Myotubularin, important in myogenesis (Xq 28) Nemaline Myopathy n n n Ryanodine receptor, Ca channel that mediates excitation/contraction coupling, (AD – chromosome 19 q 13) Associated with Malignant Hyperthermia Caused by many defects, disorder of thin filaments Rod-like stuctures on muscle biopsy Inflammatory n n n Juvenile Dermatomyositis Inclusion Body Myositis (usually distal) Adult Polymyositis (associated with malignancy)

Myotonic Muscular Dystrophy or Steinert’s disease n Presentation – adult with multiple systems affected

Myotonic Muscular Dystrophy or Steinert’s disease n Presentation – adult with multiple systems affected n Primarily distal and facial weakness n Facial features: frontal balding in men, ptosis, low-set ears, hatchet jaw, dysarthria, swan neck, ^ shaped upper lip n Myotonia: worse in cold weather, after age 20 n Heart: conduction block – evaluate syncope n Smooth muscle: constipation, care with swallowing, gallstones, problems with childbirth, BP lability n Brain: learning disabilities, increased sleep requirement n Ophthalmology: cataracts n Endocrine: insulin resistance, hypothyroidism, testicular atrophy

Thomsen’s miotonia

Thomsen’s miotonia

n Genetics: n n n Mothers can have adult or congenital onset offspring; fathers

n Genetics: n n n Mothers can have adult or congenital onset offspring; fathers can have adult onset offspring Parents may not be aware of own diagnosis Myotonin gene is affected as well as adjacent transcription factor gene SIX 5 by CTG repeat in noncoding region of chromosome 19 q 13. 3, and anticipation seen with increased repeats Muscle biopsy with internalized nuclei, type 1 fiber atrophy, ring fibers, and sarcoplasmic masses Congenital: severe form, initial respiratory distress after birth with ventilatory requirement or apnea, feeding difficulty, mental retardation, club feet, scoliosis, strabismus

Treatment - Medications n Steroids n n n Briefly increase strength, slow progression in

Treatment - Medications n Steroids n n n Briefly increase strength, slow progression in dystrophinopathy for walking, arm use, and respiratory function Weekend or 15 -20/month as well as prednisolone/deflazacort may minimize SE Dilantin and Tegretol raise the repolarization threshold and improve myotonia Methylphenidate improves daytime somnolence in DM Albuterol may help in FSH MD Creatine and glutamine may help delay progression/improve energy in youngest with DMD

Treatment – future therapies n Genetic therapies n Repairing the mutated sequences n n

Treatment – future therapies n Genetic therapies n Repairing the mutated sequences n n n Replacing the mutated sequences n n Using cell’s own repair mechanisms but adding template Gentamicin trial for relaxation in stop codon recognition for DMD has not worked Inserting truncated genes or whole gene with vector Upregulation of similar functioning proteins n Utrophin in DMD

Therapy n Contracture prevention n Stretching exercises and postural changing n n Stretch the

Therapy n Contracture prevention n Stretching exercises and postural changing n n Stretch the most contracture prone groups (gastrocnemius, hip flexors, iliotibial bands, hamstrings) AFO at night to supplement (ankle foot orthosis)

n Strengthening/conditioning/endurance Goal is to maintain or improve muscle strength and maximize functional ability

n Strengthening/conditioning/endurance Goal is to maintain or improve muscle strength and maximize functional ability – slight improvement is possible n Additional goal is to avoid muscular damage by overwork or injury n n n No eccentric contraction or delayed soreness Voluntary active exercise such as swimming/hydrotherapy or cycling in ambulatory children currently recommended

n Mobility aids n n n n Walking orthoses – KAFO (knee ankle foot

n Mobility aids n n n n Walking orthoses – KAFO (knee ankle foot orthosis) Standing frames, standing wheelchairs, swivel walker occasionally used Walkers where arm strength less affected Transfer board Wheelchair – power needed for independence Plan for indoor lift, van with lift, roll in shower Improving daily activities of daily living n n n Physical and Occupational Therapy – teaching modified techniques Antigravity orthoses are being developed to assist in daily living activities Splinting and therapy to prevent hand contractures

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n Surgery n note the risk inherent to surgery – malignant hyperthermia Palliative vs.

n Surgery n note the risk inherent to surgery – malignant hyperthermia Palliative vs. rehabilitative Tendon releases n Achilles n n n Need KAFO to walk post-op Relieves pain and allow shoe wear Hamstring and iliotibial band n n Relieves hip and knee pain or contracture Allows better gait compensation

n Scoliosis – spine stabilization n Bracing is not effective with progressive neuromuscular disease

n Scoliosis – spine stabilization n Bracing is not effective with progressive neuromuscular disease n Timely correction of scoliosis is important for patient comfort and respiratory ability n Spine and scapular stabilization may aid function of arms n Ophthalmology n Deficient eye closure oculomaxillofacial MD and FSH MD may require artificial tears or tarsorrhaphy n Treatment for cataracts in Myotonic MD

Respiratory n n n Patients with morning headache, nightmares, excessive daytime somnolence, mental dullness,

Respiratory n n n Patients with morning headache, nightmares, excessive daytime somnolence, mental dullness, difficulty concentrating, increased colds, coughing, or pneumonia should undergo evaluation Influenza vaccine and pneumococcal vaccine In-exsufflator for airway clearance, cough assist Pulmonologist, pulmonary function testing

n Assisted noninvasive ventilation Oxygen alone does not ventilate! n Positive pressure ventilation vs.

n Assisted noninvasive ventilation Oxygen alone does not ventilate! n Positive pressure ventilation vs. volume ventilation with pressure limit n n Assisted ventilation with tracheostomy Talk to patient about degree of desired intervention when respiratory status first starts to decline and before an acute event n The goal is home ventilation n n Cardiology EKG – pacemaker for conduction defects and arrhythmias n Echocardiogram – afterload reduction, digoxin for cardiomyopathy n

n Nutrition/GI n Overweight and underweight are common problems n n n Overweight impairs

n Nutrition/GI n Overweight and underweight are common problems n n n Overweight impairs mobility Underweight decreases strength & health Protein and calorie supplements Assess for dysphagia Intestinal hypomotility in DMD, CMD, and myotonic dystrophy can require a bowel regimen to prevent constipation

n Osteopenia/Osteoporosis Begins before walking stops, fractures may end walking n Worsened by steroids

n Osteopenia/Osteoporosis Begins before walking stops, fractures may end walking n Worsened by steroids n Calcium supplements, Miacalcin may help n n Psychology/Neuropsychological Education – aid in planning n Special education may not be needed with accomodation and modifications n Progressive loss of function affects patient and family n