Other must know diseases Flashcards
Cerebral Palsy
Brain paralysis- Disorder of movement, M tone, Posture from immature development brain before birth
Types: Spastic, Athetoid(uncontrolled movement), Rigidity, Tremor, Ataxia
Epi: 2-2.5 1000, males
Aet: Abnorm or disrupted brain development before birth. trig unknown but risk factors inc: genetic mutation, maternal infection, fetal stroke, vascular disruption
Symp: -Dx afetr 1yr when fail to meet mile stones & no reflex suppression. -Abnormal M tone -Asymetrical crawling or handedness -Mental disability - hearing impairment
Comp: -Contractures -Malnutrition -Mental health -Lund D
-Neuro conditions -OA
Spina Bifida
Defective closure of vertebral column
3x types- Spina Bifida Oculta (vert fusion not complete, asymptomatic mostly, abnorm hair growth & birth mark at site)
Epi: 1-2 1000, lower socioeconomic areas
Aet: Unknown, but linked to a decrease in folate levels in mother during pregnancy
Path: Defect between 17th-30th day gestation
Symp: -If Spinal cord/ Lumbsacral N roots involved then paralysis + sensory loss below lesion.
-Scoliosis -Increased thoracic Kyposis -Clubfoot
Signs: Xray or MRI
Muscular Dystrophy
Group of inherited M disorders. Weaken MSK + disable walking
Aet: Inherited mutated Dystrophin Gene (recessive or Dominant inherited, Sex-linked, spontaneous mutation)
3X Types:
-Duchenne: Mostly males + under 5 (1 in 3,600). Delayed milestone development followed by wasting in legs + waddle Gait (often wheel chair from young age), Comps W berthing + cardiomyopathies.
-Becker: 7-12 males(rare). M weak, cramp, fatigue, less severe than Duchenne.
-Myotonic(very rare). M weak, ptosis & inability to close jaw.
Mulitple Sclerosis
epi: more common in females 20-40
Aet: Unknown. thought to be a combo factors resulting from environment eg. bacterial infection and genetic susceptibility
Path: Inflammation and demyelination of CNS and spinal cord. Creates plaque lesions. May be a reaction to T cells in peripheries and creates an inflammatory response. Destroys oligodendrocytes
S + S: location of plaque dictates presentation
-Paraesthesia (1 or more extremities, trunk or face)
-Weakness, clumsiness -Fatigue -Stiff limbs
-Visual disturbance/vertigo -Bladder control change
-P and depression
Management: reg exercise, Vit D
Myasthenia Gravis
rare auto immune D against Achetocholine receptors at neuromuscular junction in MMs.
Epi: Vary rare (15 in 100,000), any age, M
Aet: Unknown
Path: decreased # ACh receptors at endplate- progressive loss # M fibres activated= fatigue
Prog: Good if treated
S+S: -specific non genral M. weak
-Extra ocular M. weakness Ptosis (50% init. then 90% at some stage) -Limb weaker proximal than distal
Comp: Respiratory, Pneumonia
Complex Regional Pain Syndrome (CRPS)
Long term disorder of NS. Collection of S+S at site of injury to arm or leg after healed. Poorly understood, difficult to Dx
Epi: Very rare, all ages but most common 40-60 + F
Aet: Unknown. Irritated + damaged nerves of Sympathetic NS (digestion, H.R, BP) related to injury, even very minor.
Triggered by: Trauma, surgery, Heart D, Stroke, N entrap, shingles, fibromyalgia, carpal tunnel syndrome
S+S: Acute phase 1-3: burning P, swelling of Extremity, vasospasm, tenderness, excess sweating
Dystrophic 3-9mnth: Intensified P, shiny skin, thick skin, contracture
Atrophic 9mnths or longer: skin change irreversible, osteoporosis present X-ray, P to other areas, decreased ROM with contracture
Ehler’s Danlos Syndrome
Rare D of connective tissue= increased flexibility ints, elastic skin, decreased healing
Epi: very rare (1-400,000), any age
Aet: Defect in gene that controls connective T
Path: Fragile connective T = problem in Jnts + bones + weakens internal organs
S+S: M weakness, fall down easily, some int P, Flexy ints, Hump back, Flat feet, elastic skin, big wounds as decreased blood clotting
Comp: Arterial aneurisym, Valvular prolapse, Spontaneous pneumothorax
