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A rapidly progressive disorder associated with degeneration of motor nerve cells, replacing them with scar tissue
Neurons affected by ALS
both upper motor and lower motor neurons including brainstem, spinal cord and corticospinal tract
Signs and symptoms of ALS (9)
weakness, atrophy, fatigue, spasticity, hyperreflexia, dysarthria, dysphagia, emotional lability, fasiculations
PT for ALS patients might include
strengthening, stretching, ROM, transfer training, wheelchair fitting, gait training, assistive devices, AFOs
Spinal muscular atrophy affects
muscles throughout body but predominately proximal muscles. Weakness in legs often greater than in arms
Autosomal recessive genetic disease caused by missing or mutated gene called survival motor neuron
Spinal muscular atrophy
4 types of spinal muscular atrophy
Type I (Werdnig Hoffman Disease), Type II, Type III (Kugelberg-Welander or Juvenile SMA), Type IV: Adult Onset
Type IV, adult Onset SMA typically
begins after age 35, loss of function occures rapidly when ill or gradually
Diagnosing SMA occurs via
a blood test looking for the absence of SMN1 gene (also suggestive history and physical exam)
PT for SMA patients
ROM, Seating systems, Chest PT, Aquatics, Standing frames/wheelchairs, Orthoses, Assistive devices
2/3 of Guillain Barre patients report
a fever with respiratory or GI tract disorder 1-3 weeks prior to onset
Inflammation and demyelination in all nerves due to a cellular immunologic response...
Signs and symptoms of Guillain Barre
ANS dysfunction, Sensory loss, Symmetrical muscle weakness distal to proximal (evolves in hours to up to 10 days), decreased DTRs
Medical management of Guillain Barre includes
repeated plasmopheresis, steroids, gamma globulin, other immunomodulators, psychological support, proper analgesics
Myesthenia gravis is
an aquired autoimmune disorder associated with deficiency of acetylcholine receptors at the NeuroMuscular junction
Signs and symptoms of Myesthenia gravis
weakness and fatigue of muscles, Usually begins with eyelids (ptosis), symptoms fluctuate through day though improve with rest
Medical treatment of Myesthenia Gravis:
Drugs to deactivate acetylchoninesterase, High dose steroids, gamma globulin, other immunomoderlators, thymectomy, plasmapheresis
Physical therapy and Myesthenia Gravis
Rarely needed. Most pts live normal lives. If referred to PT activities should be light, short in duration and few reps
The term muscular dystrophy refers to
a group of steady progressive, degenerative myopathies with genetic determination
Duchenne's Muscular Dystrophy is
the most common form of MD, affects boys only (asymptomatic mother to male child), boy usually dies by age 20
Gower's sign is __ and is associated with __
child who must "crawl" up his legs to rise to standing (due to hip weakness), in Duchenne's MD
Impairments with Duchenne's Muscular Dystrophy
weakness, decreased AROM and PROM, loss of ambulation, decreased pulmonary function, lumbar lordosis (b/c of imbalanced hip muscles), scoliosis
Myotonic muscular dystrophy is
an autosomal dominant disorder, first noticed in adolescence and characterized by myotonia and muscle weakness
Characteristic appearance of Myotonic muscular dystrophy
long thin face with temporal and masseter muscle wasting, frontal balding, weakness and wasting of SCM
Myotonic muscular dystrophy patients present with weakness and wasting...
distally (foot drop,difficulty opening jars)
Fascioscapulohumoral MD is
autosomal dominant disorder involving face, shoulder girdle muscles (asymmetrical scapular winging) progressing into pelvic girdle. Patients wear corset-like back support and are active throughout adulthood.
with all forms of Muscular Dystrophy, it is important to exercise but...
not to the point of fatigue
Limb girdle MD is not fatal but...
if the heart or respiratory muscles become involved, this could lead to death
Myesthenia Gravis affects what part of the body?
Begins with eyelids,proceeds to throat, then trunk then limb
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