This blog keeps track of my life as a chiropractic student. I'll be sharing my education and learning experiences throughout my tenure as a DC student starting from my very first day of class on Wednesday, Jan 14th, 2009 through my graduation on Saturday, April 21, 2012. :)
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Thursday, September 30, 2010
T6, Wk4, Day 352 - My Friend Died ...
Wednesday, September 29, 2010
T6, Wk4, Days 350, 351 - Tue & Wed
Monday, September 27, 2010
T6, Wk4, Day 349 - Monday. Radiology Rotation



This last picture is from an opposing side of the room and shows where that old fashioned type of x-ray film is looked at, by shining light through the developed film.
T6, Wk3, Days 346, 347, 348 - Wed, Thur, Fri
Tuesday, September 21, 2010
T6, Wk3, Days 344, 345, Mon & Tue

Monday, September 20, 2010
T6, W2, Days 339, 340, 341, 342, 343, M-F
Sunday, September 12, 2010
T6, Wk1, Day 338, Friday - ProD & Neurology

Whew! It's 3:30 in the morning and I've got to be up in two hours to get ready for school! Not sure what happened but, after a lackluster Saturday and a relatively lax Sunday morning, I kind of went into overdrive and got a bunch of much needed stuff done Sunday evening ...well, and Monday morning.
Just doing the math .... there are about 700,000 strokes annually in the US so with a population of 300 million that comes out to 1 in every 428 people. Then I look at 6 different studies which cite the rate of stroke associated with chiropractic manipulation at less than 1 in a million ... hmmmm Actually, averaging those 6 studies from '78 to '96 gives a rate of 1 in 3.375 million
Thursday, September 9, 2010
T6 – Wk1, Day 337 – Ch10 Arthritic Disorders Outline
From Yochum and Rowe's Essentials of Skeletal Radiology, 3rd ed, Volume Two
Ch 10 – Arthritic Disorders
(broad outline)
- INTRODUCTION TO RADIOLOGIC INTERPRETATION IN JOINT DISEASE
- Perspectives in Interpretation of Joint Disease
- Anatomic Considerations
- Radiologic Considerations
- Differential Diagnosis of Arthritis
- Perspectives in Interpretation of Joint Disease
- DEGENERATIVE DISORDERS – pg 958
- Degenerative Joint Disease
- Erosive Osteoarthritis
- Diffuse Idiopathic Skeletal Hyperostosis
- Ossified Posterior Longitudinal Ligament Syndrome
- Neurotrophic Arthropathy
- Synoviochondrometaplasia
- Degenerative Joint Disease
- INFLAMMATORY DISORDERS – pg 1010
- Rheumatoid Arthritis
- Juvenile Rheumatoid Arthritis
- Ankylosing Spondylitis
- Enteropathic Arthritis
- Psoriatic Arthritis
- Reiter's Syndrome
- Systemic Lupus Erythematosus
- Jaccoud's Arthritis
- Idiopathic Chondrolysis of the Hip
- Scleroderma
- Osteitis Condensans Ilii
- Osteitis Pubis
- Hypertrophic Osteoarthropathy
- Rheumatoid Arthritis
- METABOLIC DISORDERS – pg 1084
- Gout
- Calcium Phyrophosphate Dihydrate Crystal Deposition Disease
- Hydroxyapatite Deposition Disease
- Ochronosis
- Tumoral Calcinosis
- Sarcoidosis
- Pigmented Villonodular Synovitis
- Gout
Ch 10 – Arthritic Disorders
(specific outline)
INTRODUCTION TO RADIOLOGIC INTERPRETATION IN JOINT DISEASE
- Perspectives in Interpretation of Joint Disease – over 100 rheumatic conditions have been identified and classified. By understanding joint anatomy, pertinent clinical features, pathophysiology and important roentgen signs, a single dx or sort list of diff dx can usually be made.
- Incidence of Individual Arthrities
- weekly –
- DJD (osteoarthritis)
- DJD (osteoarthritis)
- Montly –
- ankylosing spondylitis,
- CPPD,
- DISH,
- Osteitis condesans ilii,
- Psoriatic arthritis,
- rheumatoid arthritis
- synoviochondrometaplasia
- ankylosing spondylitis,
- Yearly
- Gout
- Infection
- SLE
- Reiter's syndrome
- Scleroderma
- Gout
- Cinical Information – Table 10-2, General Age of Onset of Arthritis
- 0-20 Years
- Juvenile rheumatoid arthritis
- Juvenile rheumatoid arthritis
- 20-40 Years
- Anklylosing spondylitis
- Osteitis condensans ilii
- SLE
- Psoriatic arthritis
- Reiter's syndrome
- Scleroderma
- Synoviochondrometaplasia
- Anklylosing spondylitis
- >= 40 Years
- DJD
- DISH
- Gout
- Hypertrophic osteoarthropathy
- Pseudo-gout (CPPD)
- DJD
- Cinical Information – Table 10-3, Arthropathies Associated with Distinct Sex Predilection
- Male
- Ankylosing spondylitis
- gout
- hypertrophic osteoarthropathy
- reiter's syndrome
- secondary osteoarthritis
- Ankylosing spondylitis
- Female
- Juvenile rheumatoid arthritis
- SLE
- Osteitis condensans ilii
- Primary osteoarthritis
- rheumatoid arthritis
- scleroderma
- Juvenile rheumatoid arthritis
- Anatomic Considerations – pg 952. Essentially, three broad categories of articulations exist in the body and are classified according to the tissue type at the junctional region: fibrous, cartilaginous and synovial.
- Fibrous Joints – example; cranial sutures; syndesmoses (tibia-fibula, radius-ulna)
- Cartilaginous – ex. symphysis pubis; intervetebral discs, manubriosternal junction. regarding IVD's, the inner fibers are made up of fibrocartilage and the outer fibers of collagen. attachment to the annulus is by way of penetrating fibers and Sharpey's fibers.
- Synovial – ex, fingers, toes, knees, hips; apophyseal joints, sacroiliac joints
- Joint Capsule – essentially serves the function of a ligament and not normally visible radiographically.
- Synovial Membrane –
- Synovial Fluid – a direct dialysate of blood plasma to which is added a mucoid substance secreted by the synovium. – provides lubrication and nutrition for the joint
- Articular Cartilage – hyaline is the most common. it is composed of chondrocytes embedded in a matrix of collagen fibrils and a ground substance made up of mucopylysacchardes, particularly chondroitin sulfate
- Subchondral Bone Plate – bony tissue beneath the articular cartilage is composed of a thin cortex and underlying cancellous trabeculae.
- Joint Capsule – essentially serves the function of a ligament and not normally visible radiographically.
- Fibrous Joints – example; cranial sutures; syndesmoses (tibia-fibula, radius-ulna)
- Radiologic Considerations – pg 954
- Technologic Aspects – xray examination of a joint requires a minimum of two views perpendicular to each other with at least one view clearly demonstrating the opposing articular sufaces.
- Anatomic-Radiologic Correlation – use the ABC's approach
- A, Alignment
- B, Bones
- C, Cartilage
- S, Soft tissue
- A, Alignment
- Basic Terminology in Joint Disease – pg 955
- enthesis – anatomic term for the transition zone btw bone and ligament or tendon
- enthesopathy – inflammatory cellular infiltrate at the bone-ligament or bone-tendon junction. Seen in inflammatory arthritides, especially ankylosing spondylitis as cortical erosion and periostitis.
- erosion – loss of bone owing to pressure atrophy or active breakdown of bone tissue.
- hyperostosis – Exuberant ossification of a ligament or tendone, characteristically seen in diffuse idiopathic skeletal hyperostosis.
- monoarticular – a single joint is involved in the dz process.
- non-uniform loss of joint space – localized decrease in the joint cavity owing to isolated loss of cartilage usually at the most stressed site. This is a sign of degenerative arthritis.
- osteophyte – degenerative bony outgrowth continuous with underlying cortex, covered with a cartilaginous cap, occurring at the insertion of a ligatent near a joint.
- pauciarticular – two to four joints are involved in the dz process.
- periostitis – elevation of the periosteum results in localized periosteal new bone and is seen in inflammatory arthritides.
- polyarticular – more than four joints are involved in the dz process.
- threumatoid variants – inflammatory arthropathies that may simulate theumatoid arthritis clinically but lack theumatoid factor and show different pathologic and radiographic features.
- seronegative arthritis – inflammatory arthritis that lacks the presence of rheumatoid factor, including ankylosing spondylitis, psoriatic arthritis, Reiter's syndrome and enteropathic arthritis.
- spondyloarthropathy – inflammatory arthritis involving the spine.
- spondylophyte – degenerative spinal osteophyte.
- symmetric pattern of joint involvement – when comparing one side of the body with the other or one joint to another, the changes appear similar.
- syndesmophyte – inflammatory ossification within a spinal ligament, especially ankylosing spondylitis (marginal type) and, less commonly, psoriasis or Reiter's syndrome (non-marginal type).
- uniform loss of joint space – the entire joint cavity is decreased owing to complete loss of the cartilage independent of stressed areas: This is a sign of inflammatory arthritis.
- enthesis – anatomic term for the transition zone btw bone and ligament or tendon
- Technologic Aspects – xray examination of a joint requires a minimum of two views perpendicular to each other with at least one view clearly demonstrating the opposing articular sufaces.
- Differential Diagnosis of Arthritis, pg 955 – A successful diff dx among arthritic disorders is based on the correlation of clinical, pathologic and radiographic findings.
- Inflammatory - …these include rheumatoid arthritis, psoriasis, ankylosing spondylitis and Reiter's syndrome.
- Degenerative – in contrast to inflammatory dz, here we exhibit a non-uniform loss of joint space, Osteophytes, subchondral sclerosis, subchondral cysts and a predilection for being distrinctly asymmetric.
- Metabolic – joint spaces are generally preserved …
- Inflammatory - …these include rheumatoid arthritis, psoriasis, ankylosing spondylitis and Reiter's syndrome.
My head is going to explode! I need to switch now to a different topic ….
DEGENERATIVE DISORDERS – pg 958
- Degenerative Joint Disease
- Erosive Osteoarthritis
- Diffuse Idiopathic Skeletal Hyperostosis
- Ossified Posterior Longitudinal Ligament Syndrome
- Neurotrophic Arthropathy
- Synoviochondrometaplasia
INFLAMMATORY DISORDERS – pg 1010
- Rheumatoid Arthritis
- Juvenile Rheumatoid Arthritis
- Ankylosing Spondylitis
- Enteropathic Arthritis
- Psoriatic Arthritis
- Reiter's Syndrome
- Systemic Lupus Erythematosus
- Jaccoud's Arthritis
- Idiopathic Chondrolysis of the Hip
- Scleroderma
- Osteitis Condensans Ilii
- Osteitis Pubis
- Hypertrophic Osteoarthropathy
METABOLIC DISORDERS – pg 1084
- Gout
- Calcium Phyrophosphate Dihydrate Crystal Deposition Disease
- Hydroxyapatite Deposition Disease
- Ochronosis
- Tumoral Calcinosis
- Sarcoidosis
- Pigmented Villonodular Synovitis
T6 - Wk1, Day336 - Wednesday

Saturday, September 4, 2010
Outline - Ch 39 Degenerative Dzs of the Nervous System
From Adams and Victor's Principles of Neurology, Ninth Edition
Part 4: Major Categories of Neurologic Disease, pg 589
Ch 39: Degenerative Diseases of the Nervous System, pg 1011-1080
General Clinical characteristics of Degenerative Diseases
General Pathologic and Pathogenic Features
- Clinical Classification
- Syndrome of progressive dementia, other neurologic signs being absent or inconspicuous
- Diffuse cerebral atrophy
- Alzheimer dz
- Alzheimer dz
- Circumscribed cerebral atrophies including primary progressive aphasias and progressive visuospatial disorders
- pick dz (lobar sclerosis)
- frontotemporal dementias including primary progressive aphasias
- pick dz (lobar sclerosis)
- Syndrome of progressive dementia in combination with other neurologic abnormalities
- Huntington dz (chorea)
- Lewy-body dz
- some cases of Parkinson dz
- corticobasal ganglionic degeneration
- cortical-striatal-spinal degeneration (Jakob dz)
- Demential-Parkinson-anyotrophic lateral sclerosis complex
- cerebrocerebellar degeneration
- Familial dementia w/ spastic paraparesis, amyotrophy or myoclonus
- Polyglucosan body dz
- Frontotemporal dementia with parkinsonism or ALS
- Huntington dz (chorea)
- Syndrome of disordered posture and movement
- Parkinson dz
- multiple system atrophy (striatonigral degeneration and Shy-Drager syndrome
- Progressive spuranuclear palsy
- Dystonia musculorum deformans
- Huntington dz (chorea)
- Acanthocytosis with chora
- Corticobasal ganglionic degeneration
- Lew-body dz
- Restricted dystonias, including spasmodic torticollis and Meige syndrome
- Essential tremor
- Parkinson dz
- Syndrome of progressive ataxia
- Spinocerebellar ataxias (early onset)
- Cerebellar cortical ataxias
- Complicated hereditary and sporadic cerebellar ataxias
- Olivopontocerebellar degenerations (OPCA)
- w/ extrapyramidal and autonomic degeneration
- (Menzel type)
- Olivopontocerebellar degenerations (OPCA)
- Dentatorubral degeneration
- Dentatorubropallidoluysian adtrophy (DRPLA)
- Machado-Joseph (Azorean) dz
- Other complicated late onset …
- Spinocerebellar ataxias (early onset)
- Syndrome of slowly developing muscular weakness & atrophy
- Motor disorders w/ amyotrophy
- ALS, et. al.
- ALS, et. al.
- Spastic paraplegia without amyotrophy
- primary lateral sclerosis
- hereditary spastic paraplegia (Strumpell-Lorrain)
- primary lateral sclerosis
- Sensory and sensorimotor disorders (neuropathies; see ch46)
- Syndrome of progressive blindness or ophthalmoplegia with or without other neurologic disorders (see ch 13)
- Syndromes characterized by degenerative neurosensory deafness (see ch15)
- Diseases Characterized Mainly By Progressive Dementia
- Alzheimer Disease – most common and important degenerative disease of the brain …
- Epidemiology – majority of pts are in their 60s or older.
- Clinical Features (see also ch21) – The gradual development of forgetfulness is the major symptom.
- echolalia – a rather dramatic repetition of every spoken phrase
- acalculia or dysalculia – when a pt can no longer carry out the simplest calculations
- ideational and ideomotor apraxia – advanced forms of motor incapacity
- echolalia – a rather dramatic repetition of every spoken phrase
- Minimal Cognitive Impairment (MCI)
- 1. Korsakoff amnesic state – a disproportionate failure of retentive memory w/ integrity of other cognitive abilities – immediate memory is essentially a measure of attention – short term and long-term (retentive) memory fails
- 2. Dysnomia – the forgetting of words, especially proper names. Later the difficulty involves common nouns & progresses to the point where fluency of speech is seriously inpaired. Every sentence is broken by a pause and search for the wanted workd; if this is not found, a circumlocution is substituted or the sentence is left unfinished.
- 3. Visuospatial disorientation – Parietooccipital functions are sometimes deranged in the course of Alzheimer dz and may fail while other functions are relatively preserved.
- 4. Paranoia and other personality and mood changes – frequently, at some point in the development of Alzheimer dementia, paranoia or bizarre behavior occasionally assum prominence.
- 1. Korsakoff amnesic state – a disproportionate failure of retentive memory w/ integrity of other cognitive abilities – immediate memory is essentially a measure of attention – short term and long-term (retentive) memory fails
- For research purposes, etc – exclusive criteria for the dx of Alzheimer dz two groups have adopted 5 criteria. The two groups are National Institute of Neurological and Communicative Disorders and Stroke (NINCDS) and the Alzheimer's Dz and Related Dz's Association (ADRDA). The 5 criteria are
- 1. dementia defined by clinical examination (the Mini-Mental Scale, see Table 21-6)
- 2. pt older than 40
- 3. deficits in two or more areas of cognition and progressive worsening of memory and other cognitive functions such as language, perception and motor skills (praxis)
- 4. absence of disturbed consciousness
- 5. exclusion of other brain dz
- 1. dementia defined by clinical examination (the Mini-Mental Scale, see Table 21-6)
- using these criteria, correct diagnosis is achieved in more than 85 percent of patients.
- Epidemiology – majority of pts are in their 60s or older.
- Pathology – in advanced stages the brain presents a diffusely strophied appearance and it's weight is usually reduced by 20 percent or more. Cerebral convolutions are narrowed and sulci are widened (I saw an example of this in Neuro lab w/ Dr. Clifford)
- Three microscopic changes give this dz its distinctive character
- 1. presence within the nerve cel cytoplasm of thick, fiber-like strands of silvers-staining material, also in the forms of loops, coils or tangled masses ("tangles")
- 2. spherical deposits of amorphous material scattered throughout the cerebral cortex and easily seen w/ periodic acid-schiff (PAS) and silver-staining methods – the core of the aggregates is the protein amyloid surrounded by degenerating nerve terminals (neuritic plaques)
- 3. Granulovacuolar degeneration of neurons, most evident in the pyramidal layer of the hippocampus – probably, this last change is reactive and least important in diagnosis
- 1. presence within the nerve cel cytoplasm of thick, fiber-like strands of silvers-staining material, also in the forms of loops, coils or tangled masses ("tangles")
- Pathogenesis –
- Tau, when talking about a protein in this context is not the Greek letter but rather an acronym for "tubulin associated unit"
- APP – amyloid-protein precursor
- The gene coding for APP is located on chromosome 21, one of the regions linked to one type of familial Alzheimer dz and the duplicated chromosome in Down syndrome – possible overproduction of amylid and all its ABeta residues as being causative factors in the dz. other mechanistic theories exist
- Tau, when talking about a protein in this context is not the Greek letter but rather an acronym for "tubulin associated unit"
- Diagnostic Studies – CT scanning and MRI are useful, but not definitive, ancillary test.
- In advanced stages, the lateral and third ventricles are enlarged to about twice normal size and cerebral sulci are widened.
- SPECT, single-photon emission for study of cerebral blood flow
- PET, positron emission tomography, for metabolism study
- Newer PET ligand agents that bind to amyloid, such as the "Pittsburgh compound" are more sensitive in identifying and plotting the course of Alzheimer disease.
- In advanced stages, the lateral and third ventricles are enlarged to about twice normal size and cerebral sulci are widened.
- Differential Diagnosis (see also Table 21-3) – Alzheimer dz is a form of dementia – The potentially treatable forms of dementia are those caused by normal-pressure hydrocephalus; chronic subdural hematoma; the dementia of AIDS; paraneoplastic limbic encephalitis; nutritional definciencies (thiamine – Wernicke-Korsakoff syndrome, Marchiafava-Bignami dz, pellagra, vitamin B12 deficiency); chronic drug intoxication (e.g., alcohol, sedatives); multiple cerebral infarctions; certain endocrine and metabolic disorders (myxedema, Hashimoto encephalopathy, neurosyphilis and other chronic meningitides, Cushing dz, chronic hepatic encephalopathy); frontal and temporal lobe tumors; cerebral vasculitis; sarcoidosis; Whipple dz; multiple sclerosis; and perhaps above all, the pseudodementia of depression. Exclusion of most of these diseases is readily accomplished by sequential outpatient evaluations or by a brief admission to a hospital were examinations of blood CSF, EEG, CT, MRI and neuropsychologic testing can be undertaken.
- Treatment – there is no evidence that any of the previously proposed forms of therapy for Alzheimer dz – cerebral vasodilators, stimulants, L-dopa, massive doses of vitamins B, C and E, gingko biloba and many others has any salutary effect. Trials of oral physostigmine, choline and lecithin have yielded mostly negative or uninterpretable results and the evidence favoring the currently popular cholinergic precursors and agonists and acetylcholinesterase inhibitors, such as donepezil, is valid but only modest. With regard to the latter group of drugs, several large trials have demonstrated a slight prolongation of the pts ability to sustain an independent life, but such evidence generally requires that the medications be taken for 6 to 12 months. ….
- NMDA – N-methyl-D-aspartate – here I'm assuming we're talking about NMDA receptors as mentioned in previous blogs pertaining to neuromusculoskelatal dx (NMS). The NMDA – N-methyl-D-aspartate glutaminergic antagonists, specifically memantine (20mg daily), have also been tried. - …there was no change in three main measures of cognitive performance but, because the side effects were ostensibly minor this drug was approved for use in late-stage Alzheimer dz and in conjunction with cholinergic drugs.
- NMDA – N-methyl-D-aspartate – here I'm assuming we're talking about NMDA receptors as mentioned in previous blogs pertaining to neuromusculoskelatal dx (NMS). The NMDA – N-methyl-D-aspartate glutaminergic antagonists, specifically memantine (20mg daily), have also been tried. - …there was no change in three main measures of cognitive performance but, because the side effects were ostensibly minor this drug was approved for use in late-stage Alzheimer dz and in conjunction with cholinergic drugs.
- Associated Pathologic States – Amyloid plaques and tangle deposition are far more common in the brains of pts w/ Parkinson dz (20 to 30 percent) than in the brains of age-matched controls. These findings partly explain the high incidence of dementia in pts w/ Parkinson disease.
- Lobar Atrophies (Pick Disease and Frontotemporal Dementia)
- Clinical Features –
- Clinical Features –
- Frontotemporal Dementia –
- Primary Progressive Aphasia
- Posterior Cortical Atrophy
- Lewy-body Dementia
- Clinical Features
- Clinical Features
- Other Degenerative Dementias
- Diffuse Cerebral Atrophy of Non-Alzheimer Type
- Argyrophilic Grain Disease
- Thalamic Dementia
- Neuroserpinopathy
- Diffuse Cerebral Atrophy of Non-Alzheimer Type
- Vascular (Multiinfarct) Dementia
- Denentia Caused by Metabolic Diseases (see ch 37)
- Dementing Diseases in Which Other Neurologic Abnormalities are Prominent
- Huntington Disease (Huntington Chorea)
- This disease is distinguished by the triad of dominant inheritance, choreoathetosis and dementia, commemorates the name of George Huntington, a medical of Pomeroy, Ohio. In 1872, his paper, read before the Meigs and Mason Academy of Medicine and published later that year in the Medical and Surgical Reporter of Philadelphia, gave a succinct and graphic account of the disease that was based on observations of patients that his father and grandfather had made in the course of their practice in East Hampton, Long Island.
- A marker linked ot the Huntington gene and localized to the short arm of chromosome 4 was the first important achievement in respect to the biologic understanding of Huntington dz.
- The mutation was an excessively long repeat of the trinucleotide CAG within the Huntington gene – the length of the repeating pattern not only determines the presence of the dz but also the age of onset – the longer the repeating length, the earlier appearance of signs.
- A rare alternative mutation, termed HDL2 (Huntington dzlike-2) is associated with CATCG repeat expansion of the juntophilin-3 gene but it is so rare that few clinicians will encounter it …so, maybe we'll see this on the TV show, House, MD ;)
- Clinical Features
- Pathology and Pathogenesis
- Diagnosis
- Treatment
- Acanthocytosis with Chorea
- Corticostriatospinal Degenerations
- Familia Dementia with Spastic Paraparesis
- Adult Polyglucosan Body Disease
- This disease is distinguished by the triad of dominant inheritance, choreoathetosis and dementia, commemorates the name of George Huntington, a medical of Pomeroy, Ohio. In 1872, his paper, read before the Meigs and Mason Academy of Medicine and published later that year in the Medical and Surgical Reporter of Philadelphia, gave a succinct and graphic account of the disease that was based on observations of patients that his father and grandfather had made in the course of their practice in East Hampton, Long Island.
- Disease Characterized by Abnormalities of Posture and Movement
- Parkinson Disease
- Genetic Aspects
- Clinical Features
- Diagnosis
- Pathology and Pathogenesis
- Treatment
- L-Dopa & L-Dopa-Modifying Drugs
- Dopamine Agonists
- Adjunctive Medications
- Neuroprotective Agents
- Side Effects of L-Dopa Treatment and Their Management
- L-Dopa & L-Dopa-Modifying Drugs
- Initiating Drug Treatment for Parkinson Disease
- Surgical Measures
- Genetic Aspects
- Multiple System Atrophy (Striatonigral Degeneration, Shy-Drager Syndrome, Olivopoontocerebellar Degeneration)
- Progressive Supranuclear Palsy
- Clinical Features
- Clinical Features
- Corticobasal Degeneration
- Dystonic Disorders
- Dystonia Musculorum Deformans (Torsion Dystonia)
- Dystonia Musculorum Deformans (Torsion Dystonia)
- Hereditary Dystonia-Parkinsonism (Segawa Syndrome, Juvenile Dopa-Responsive Dystonia)
- Torticollis and Other Restricted Dyskinesias and Dystonias (see ch6)
- Other Forms of Hereditary Dystonia
- Syndrome of Progressive Ataxia
- Early Onset Spinocerebellar Ataxias (Predominantly Spinal)
- Friedreich Ataxia
- Friedreich Ataxia
- Predominantly Cerebellar (Cortical, Holmes Type) Hereditary and Sporadic Ataxia
- Fragile X Tremor-Ataxic Premutation Syndrome
- Familial and Sporadic Forms of Complicated Cerebellar Atrophy with Brainstem and Extrapyramidal Features
- Cerebellar Atrophy with Prominent Basal Ganglionic Features
- Machado-Joseph-Azorean Desease (SCA3)
- Multiple System Atrophy with Predominant Ataxia
- Dentatorubropallidoluysian Atrophy (DRPLA)
- Dentatorubral Degeneration
- Paroxysmal Ataxias (see ch5)
- Machado-Joseph-Azorean Desease (SCA3)
- Genetics of the Heredodegenerative Ataxias (Table 39-5)
- Differential Diagnosis of the Degenerative Ataxias (see Table 5-1)
- Hereditary Polymyoclonus
- Syndrome of Muscular Weakness and Wasting Without Sensory Changes
- Motor System Disease
- Amyotrophic Lateral Sclerosis – a common disease with an annal incidence rate of 0.4 to 1.76 per 100,000 population. Men are affected nearly twice as often as women. Most patients are older than 45 at the onset of symptoms and the incidence increases with each decade of life. The disease occurs in a randome pattern throughout the world except for a dramatic clustering of patients among inhabitants of the Kii peninsula in Japan and in Guam, where ALS is often combined with dementia and parkinsonism. In approximately 10 percent of the cases the disease is familial, being inherited as an autosomal dominant trait with age-dependent penetrance.
- Progressive Muscular Atrophy – this purely lower motor neuron syndrome is more common in men than in women, reportedly in a 4:1 ratio.
- Progressive Bulbar Palsy
- Primary Lateral Sclerosis – PLS
- Laboratory Features of Motor Neuron Disease
- Pathology – The principal finding in ALS is a loss of nerve cells in the anterior horns of the spinal cord and motor nuclei of the lower brainstem. Large alpha motor neurons tend to be affected before small ones. In addition to neuronal loss, there is evidence of slight gliosis and proliferation of microglia cells. Many of the surviving nerve cells are small, shrunken and filled with lipofuscin.
- Diagnosis of ALS
- Pathogenesis – the pathogenesis of the sporadic form of motor system disease is not known. Some insight has been afforded by analyses of the 10 percent of ALS cases that are caused by gene mutations.
- Treatment – With the exception of riluzole, there is no specific treatment for any of the motor neuron diseases. The antiglutamate agent riluzole was shown to slow the progression of ALS and improve survival in patients with disease of bulbar onset. However, it adds only 3 months of life at best.
- Amyotrophic Lateral Sclerosis – a common disease with an annal incidence rate of 0.4 to 1.76 per 100,000 population. Men are affected nearly twice as often as women. Most patients are older than 45 at the onset of symptoms and the incidence increases with each decade of life. The disease occurs in a randome pattern throughout the world except for a dramatic clustering of patients among inhabitants of the Kii peninsula in Japan and in Guam, where ALS is often combined with dementia and parkinsonism. In approximately 10 percent of the cases the disease is familial, being inherited as an autosomal dominant trait with age-dependent penetrance.
- Heredofamilial Forms of Progressive Muscular Atrophy
- Spinal Muscular Atrophy (Werdnig-Hoffman Disease)
- Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
- Progressive Bulbar Palsy of Childhood (Fazio-Londe Syndrome)
- Spinal Muscular Atrophy (Werdnig-Hoffman Disease)
- Hereditary Forms of Spastic Paraplegia
- Hereditary Spastic Paraplegia (Strumpell-Lorrain Disease)
- Variants of Familial Spastic Paraplegia
- Hereditary Spastic Paraplegia (Strumpell-Lorrain Disease)
- Symdrome of Progressive Blindness (see ch 13)
- Hereditary Optic Atrophy of Leber
- Retinitis Pigmentosa (see ch 13)
- Stargardt Disease
- Hereditary Optic Atrophy of Leber
- Syndrome of Progressive Deafness (see ch 15)
- Hereditary Hearing Loss with Retinal Diseases
- Hereditary Hearing Loss with Diseases of the Nervous System
- Hereditary Hearing Loss with Retinal Diseases