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PT 7326 Neuroanatomy Case Study III. Jill Kloesel Jacob Garza. Examination. Jamie Williams 5 month old male Youngest child MOI- born with this condition. Examination Cont. Physical Examination Alert but not very active Facial expressions Cannot hold head up
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PT 7326 NeuroanatomyCase Study III Jill Kloesel Jacob Garza
Examination • Jamie Williams • 5 month old male • Youngest child • MOI- born with this condition
Examination Cont. • Physical Examination • Alert but not very active • Facial expressions • Cannot hold head up • Appears malnourished and smaller than average 4 month old • Peripheral pulses intact • LE in hip flexion and abduction • Difficulty breathing
Examination cont. • Neurologic Examination • Awake • Sensory component of all CN intact • Motor component of CN intact except for CN V- Trigeminal, and CN XII- Hypoglossal • Absence of typical primitive reflex responses • Rooting • Tongue fasiculations
Review of CN V and XII • CN V- Trigeminal • Sensory- sensation of face, nose, mouth • 3 divisions: ophthalmic, maxillary, mandibular • Motor- innervates muscles of mastication • Test: How do you test for this CN? • CN XII- Hypoglossal • Motor- Innervates muscle of tongue • Test: observe resting tongue for position and fasiculations • + sign= tongue fasiculations & tongue deviation toward the
Examination cont. • Motor Systems • RLE- ↓ STR, more so in proximal mm, DTR significantly diminished • LLE- ↓ STR, more so in proximal mm, DTR significantly diminished • All DTR significantly diminished • RUE & LUE- ↓ STR but not as significant as LE
Examination cont. • Sensation- All WNL
Spinal Muscular Atrophy (4) • Acute Childhood Spinal Muscular Atrophy – Type 1 • AKA Werdnig-Hoffmann • Onset- 0 to 3 months • Rapidly progressive, death within first 3 years • LE’s flexed, abducted and externally rotated • Poor head control • Decreased mm weakness and tone • Proximal mm weakness greater than distal • Decreased newborn movements
Spinal Muscular Atrophy (4) • Chronic Childhood Spinal Muscular Atrophy- Type II • Onset- before 18 months of age • Same features as type I • Rapidly progresses but will stabilize • Ability to sit at some point • Shortened life span • Reliance on power mobility
Spinal Muscular Atrophy (4) • Juvenile-Onset Spinal Muscular Atrophy –Type III • AKA Kugelberg-Welander- mild form • Onset- after 18 months • Proximal LE weakness • Walks independently • Good UE strength • Wheelchair bound by early adulthood • Slowly progressive • Ability to ambulate at some point
Spinal Muscular Atrophy (4) • Adult onset – usually after age 35 • Insidious onset and slow progression • Bulbar muscles rarely affected • So swallowing and breathing is normal
UMN Vs LMN • UMN • Lesion involving structures before the synapse with the a motor neuron • Loss of cortical control • Spastic paralysis • Increased DTRs • Return of primitive reflexes- rooting • LMN • Lesion involving structures after the synapse with the a motor neuron • loss of connection with muscle • flaccid paralysis • decreased/ absent DTRs
Anterior Horn Cell Disease • LMN are affected with this disease • Anterior horn cells are degenerated • Therefore the impulse from the corticospinal tract cannot synapse with the alpha motor neuron • Results in decreased DTRs, absence of primitive reflexes, hypotonia, mm weakness, and CN involvement
Pathology • Spinal Muscular Atrophy- Type I • Neuromuscular disease characterized by progressive weakness and wasting of skeletal muscles resulting from anterior horn cell degeneration • Second most common fatal autosomal recessive disorder after cystic fibrosis • 1/20,000 live births and 1/50 carry the genetic defect
Evaluation: Disablement Model • Pathology- spinal muscular atrophy • Impairment- decreases skeletal muscle strength • Functional Limitation- pt is unable to sit up, crawl • Disability- pt unable to interact with parents and siblings
Prognosis • The earlier the disease occurs, the faster the progression of muscle weakness and the poorer the prognosis. • Patients with Type I SMA have a poor prognosis with death likely to occur in the first 6 months.
Goals • LTG: Pt to sit up in high chair 30 minutes in 4 weeks. • STG: Pt will sit with support for 10 minutes in 1 week. • STG: Pt will hold head up independently for 5 minutes in 2 weeks.
APTA Practice Pattern • 4A: Primary prevention/risk reduction for skeletal demineralization • 4B: Impaired posture • 5E: Impaired motor function and sensory integrity associated with progressive disorders of the central nervous system • 6C: Impaired ventilation, respiration/gas exchange, and aerobic capacity/endurance associated with airway clearance dysfunction • 7A: Primary prevention/risk reduction for integumentary disorders
PT Intervention • Family education • Maintain ROM • Postural stability while sitting • Reaching for light weight toys or rattles • Aquatic therapy
References • Goodman CC, Boissonnault WG, Fuller KS. Pathology: Implications for the Physical Therapist.Pennsylyvania: Saunders; 2003. • Campbell SK, Linden DV, Palisano RJ. Physical Therapy for Children. Missouri: Saunders; 2006. • Ratliffe KT. Clinical Pediatric Physical Therapy. Missouri: Mosby; 1998.