Neuromus Disorders 2

Question 1

Muscular Dystrophies & Atrophies

Answer 1

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

Question 2

Muscular Dystrophies & Atrophies diagnosis

Answer 2

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

Question 3

Duchenne’s MD

Answer 3

Most common form of MD; detected 2-6y/o; inherited, sex linked & recessive occurring in males > rarely live past 20s

Question 4

Duchenne’s MD Symptoms

Answer 4

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

Question 5

Pseudohypertrophy

Answer 5

enlargement of calf muscles (at times forearm/thighs) giving appearance of being muscular/health

Question 6

Becker MD

Answer 6

Variant of Duchenne MD - slower to progress, less severe & less predictable

Question 7

Becker MD Symptoms

Answer 7

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)

Question 8

Arthrogyposis Multiplex Congentia

Answer 8

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

Question 9

Arthrogyposis Multiplex Congentia Symptoms

Answer 9

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

Question 10

Limb- Girdle MD

Answer 10

Onset between 1st-3rd dec of life. Prox muscles of pelvis & shoulders initially affected > typically progresses slowly

Question 11

Fascioscapulohumeral MD

Answer 11

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

Question 12

Spinal Muscular Atrophy

Answer 12

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

Question 13

Spinal Muscular Atrophy Types

Answer 13

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

Question 14

Congenital Myasthenia Gravis

Answer 14

Disorder involving transmissions of impulses in neuromus junction > onset at birth and occurring more in males

Question 15

Charcot-Marie Tooth Disease

Answer 15

Disease involving peripheral nerves marked by progressive weakness, prim inperoneal and distal leg muscles > typ in teen/earlier years

Question 16

Myopathies

Answer 16

Similar to dystrophies but progress slowly resulting in better prognosis > weakness of face, limbs & neck are characteristic

Question 17

Specific Symptoms for Dystrophies & Atrophies

Answer 17

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

Question 18

Med Mngt for Dystrophies & Atrophies

Answer 18

Meds to decrease pul/card comps, nutritional mngt (wt loss d/t inactivity), prevention of skin breakdown, steroids

Question 19

Progressive Supranuc Palsy

Answer 19

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

Question 20

Huntingtons Chorea

Answer 20

Autosomal dom disorder, begins in mid age/ Characterized by choreiform mvmts and progress intellectual deterioration > psychiatric disturbance may precede mvmt disorder

Question 21

Cerebellar/Spinocerebellar Disorders

Answer 21

Ataxia, dysmetria (under/overshooting), dysdiadochokinesia (inability to perform rapid/alternating mvmts), hypotonia, mvmt decomp tremor, dysarthria & nystagmus

Question 22

Structural Cerebellar Lesions

Answer 22

Includes strokes (vascular lesions) and tremor deposits, producing symptoms/signs appropriate to locus w/in cerebellum.

Question 23

Spinocerebellar Degen

Answer 23

group of degen disorders characterized by progressive atxia d/t degen of cerebellum, BS, SC, peripheral nerves and BG.

Question 24

Friedrich’s Ataxia

Answer 24

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

Question 25

Cerebellar Cortical Degen

Answer 25

Onset between 30-50 > changes seen in cerebellum & inf olives

Question 26

Multiple Systems Degen

Answer 26

Aka olivopontocerebellar artophies; characterized by spasticity, extrapyramidal, sensory, LMN & autonomic dysfunction

Question 27

Amyothrophic Lateral Sclerosis (ALS)

Answer 27

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.

Question 28

Symptoms of ALS

Answer 28

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.

Question 29

ALS Fx’al Rating Scale

Answer 29

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

Question 30

Tx for ALS

Answer 30

Aimed at tx secondary complications such as spasticity, prevention of aspirations, prevention of decubiti/contractures and paint mngt

Question 31

Brachial Plexus Disorder Causes

Answer 31

2nd to traction during birth, invasion of metastatic cancer, after radiation tx 2nd to fibrosis or traction injury

Question 32

Brachial Plexus Disorder Symptoms

Answer 32

Mix motor/sens d/o of corresponding limb, Rostral injuries produce shoulder dysfun while caudal injuries produce dysfun of hand

Question 33

Erb’s Palsy

Answer 33

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.

Question 34

Kulmpke’s Palsy

Answer 34

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)

Question 35

Simple Partial Seizures

Answer 35

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

Question 36

Complex Partial or Psychomotor Seizures

Answer 36

Symptoms vary; alterations in consciousness and unresponsiveness. May appear daze/confused. Automatic/repetitive movements occur. Visual/auditory sensory occurs just prior

Question 37

West Syndrome - Infantile Spasms

Answer 37

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

Question 38

Lennax-Gastaut Syndrom

Answer 38

Children w severe seizures, MR and specific EEG pattern. Seizures of diff types occur for first 3 years and are hard to control.

Question 39

Landau-Kleffer Syndrome

Answer 39

Acquired epi aphasia. Progressive encephalopathy, loss of language skills, auditory agnoisa

Question 40

Simple Febrile Seizures

Answer 40

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

Question 41

Status Epilepticus

Answer 41

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.