Neuromus Disorders 2 Flashcards
Muscular Dystrophies & Atrophies
Deg disorders resulting in muscle weakness & decreased muscle mass d/t hereditary disease process - d/t absent muscle protein product: dystrophin; ^ levels of creatine kinase (CK) in blood - diff between congenital myopathies
Muscular Dystrophies & Atrophies diagnosis
Can begin at any age, may not show symptoms until 2.5y/0; ave age for dx is 5 unless known fam hx > progress may be rapid/fatal or remain stable
Duchenne’s MD
Most common form of MD; detected 2-6y/o; inherited, sex linked & recessive occurring in males > rarely live past 20s
Duchenne’s MD Symptoms
Pseudohypertrophy; weakness of prox joints progressing leading to signif fx’al mob impairments including: trendelenberg (wadling) gait, Gower’s sign (using hands to crawl up thighs to get to standing); weakness of all vol muscles including heart/diaphragm; behavioral/learning & sometimes speech diffs
Pseudohypertrophy
enlargement of calf muscles (at times forearm/thighs) giving appearance of being muscular/health
Becker MD
Variant of Duchenne MD - slower to progress, less severe & less predictable
Becker MD Symptoms
Loss of motor fx of hips/thighs/shoulders & pelvic area, enlarged calves, cardiac system can be involved > survival can be into late adulthood (nearly normal if min cardiac involvement)
Arthrogyposis Multiplex Congentia
Detected at birth and associated with loss of ant horn cells; May be stable, mildly progressive or improve; related probs: cardiac defects, spinal defects, torticollis (neck twist to one side w head tilt) & involvement of diaphragm
Arthrogyposis Multiplex Congentia Symptoms
Presents of weakness, deformities & joint contractures; in rot of shoulders w elbow exten and wrist flex at rest & flex/in rot of hips & club feet
Limb- Girdle MD
Onset between 1st-3rd dec of life. Prox muscles of pelvis & shoulders initially affected > typically progresses slowly
Fascioscapulohumeral MD
Occurs in early adolescence, involves face, U arms & scap region > causing masking, weakness, decreased mob of face & inability to lift arms above shoulder level > as (slowly) progresses weakness can extend to abdonm/hip muscles. Rarely affects cardiac/resp muscles = can be norm lifespan
Spinal Muscular Atrophy
Caused by a decrease in a MN protein (SMN= survival of MN), chromo 5; weakness of vol muscles of shoulders, hips, thighs & U back which can cause spinal curves; muscles for breathing/swallowing can be affected > earlier detection/greater severity of fx’al def leads to decreased life expectancy
Spinal Muscular Atrophy Types
I birth/infancy= Werdnig-Hoffman has life expectancy up to 2y/o; II children= intermed form is detected 6mo-3y and progresses rapidly w lift expectancy of early childhood; III older children= later onset, less severe; IV: adolescent/adult=later onset, less severe
Congenital Myasthenia Gravis
Disorder involving transmissions of impulses in neuromus junction > onset at birth and occurring more in males
Charcot-Marie Tooth Disease
Disease involving peripheral nerves marked by progressive weakness, prim inperoneal and distal leg muscles > typ in teen/earlier years
Myopathies
Similar to dystrophies but progress slowly resulting in better prognosis > weakness of face, limbs & neck are characteristic
Specific Symptoms for Dystrophies & Atrophies
Low mus tone/weakness contribs to abnorm mvmt patterns & delayed milestones, may be diff w oral motor . g-tube, deformities, diff w breathing > tracheostomies/vents
Med Mngt for Dystrophies & Atrophies
Meds to decrease pul/card comps, nutritional mngt (wt loss d/t inactivity), prevention of skin breakdown, steroids
Progressive Supranuc Palsy
Manifested by loss of vol but preservation of reflexive eye mvmts, bradykinesa, rigidity, axial dystonia, pseudobulbar palsy & dementia > occurs in later mid life w death in 15yrs
Huntingtons Chorea
Autosomal dom disorder, begins in mid age/ Characterized by choreiform mvmts and progress intellectual deterioration > psychiatric disturbance may precede mvmt disorder
Cerebellar/Spinocerebellar Disorders
Ataxia, dysmetria (under/overshooting), dysdiadochokinesia (inability to perform rapid/alternating mvmts), hypotonia, mvmt decomp tremor, dysarthria & nystagmus
Structural Cerebellar Lesions
Includes strokes (vascular lesions) and tremor deposits, producing symptoms/signs appropriate to locus w/in cerebellum.
Spinocerebellar Degen
group of degen disorders characterized by progressive atxia d/t degen of cerebellum, BS, SC, peripheral nerves and BG.
Friedrich’s Ataxia
Autosomal recessive inheritance; onset in childhood or early adolescence. Prototype of spinal ataxia. Characterized by gait unsteadyiness, UE ataxia, & dysarthria; could include: tremor (but minor), areflexia, loss of large fiber sensory modalities > scoliosis and cardiomyopathy care common with progession
Cerebellar Cortical Degen
Onset between 30-50 > changes seen in cerebellum & inf olives
Multiple Systems Degen
Aka olivopontocerebellar artophies; characterized by spasticity, extrapyramidal, sensory, LMN & autonomic dysfunction
Amyothrophic Lateral Sclerosis (ALS)
MN disease characterized by progressive deg of corticospinal tracts & ant horncells or bulbar efferent neurons. More prev in men, onset usually about 57, death usually 2-5 after dx.
Symptoms of ALS
Mus weak & atrophy (evidence of ant horn destruction) often begins distally and symmetrically. Cramps & fasciculations (brief spontaneous contraction) precede weakness. Signs usually begin in hands. LMN signs are soon accompanied by spasticity, hyperactive deep tendon reflexes, and evidence of corticospinal tract involvement. Dysarthria & dysphagia. Sensory systems, eye mvmts & urinary sphincters are often spared.
ALS Fx’al Rating Scale
Symptoms quantified include: speech, salivation, swallowing, handwriting, cutting food, dressing/hygiene, turning in bed, walking, climbing stairs, dyspnea (SOB), orthopnea (SOB lying flat), resp insufficiency,# of years w symptoms
Tx for ALS
Aimed at tx secondary complications such as spasticity, prevention of aspirations, prevention of decubiti/contractures and paint mngt
Brachial Plexus Disorder Causes
2nd to traction during birth, invasion of metastatic cancer, after radiation tx 2nd to fibrosis or traction injury
Brachial Plexus Disorder Symptoms
Mix motor/sens d/o of corresponding limb, Rostral injuries produce shoulder dysfun while caudal injuries produce dysfun of hand
Erb’s Palsy
Paralysis of U Brach Plex including 5th/6th CNs, C& sometimes involved. Muscles most often paralysized will include: surpra/infraspinatus, deltoid, biceps, brachilais & subscap > arm cannot be raised, elbow flex is weakened (protraction/retraction of scap may be weak too); Arm presents w arm straight & wrist fully bent (waiter’s position). After 6mo contractures may present.
Kulmpke’s Palsy
Paralysis of L Brach Plex including 7/8th CNs & 1st thoracic nerve. Relatively rare, results in paralysis of hand/wrist often w ipsialat Horners syndrome (miosis, ptosis & facial anhidrosis)
Simple Partial Seizures
abnorm electrical impulses occur in localizes area of brain (often motor strip of frontal lobe). Invol, repetitive jerking of left hand/arm but can maintain interaction w environment > if becomes more generalized= LOC
Complex Partial or Psychomotor Seizures
Symptoms vary; alterations in consciousness and unresponsiveness. May appear daze/confused. Automatic/repetitive movements occur. Visual/auditory sensory occurs just prior
West Syndrome - Infantile Spasms
Infantile myoclonic seizures or jackknife epi. Begins at 3-9mo. Drop of head and flex of arms occur. Seizures occur 100x a day and prognosis is poor. Spasms sometimes decrease but are often replaced by another type of seizure d/o
Lennax-Gastaut Syndrom
Children w severe seizures, MR and specific EEG pattern. Seizures of diff types occur for first 3 years and are hard to control.
Landau-Kleffer Syndrome
Acquired epi aphasia. Progressive encephalopathy, loss of language skills, auditory agnoisa
Simple Febrile Seizures
Most common seizure type precipitated by fever. Seizure lasts less than 10 and includes LOC and invol gen jerking > usually do not cause damage or lead to epi
Status Epilepticus
Prolonged seizures or in rapid succession. Can be life threatening; sometimes triggered when abruptly stopping meds. Typically occurs w tonic-clonic seizures that are not well controlled.
