Académique Documents
Professionnel Documents
Culture Documents
Dystrophy
By: Caleb Harrington, Taylor
Cable, and Brittani Loeser
Overview
Gowers Sign
Frequent falls
Trouble running and jumping
Symptoms
Waddling gait
Calf pseudohypertrophy
Muscle pain and stiffness
Scoliosis
Learning disabilities
ETIOLOG
Y
Defective genes
Lack of dystrophin
Inherited or spontaneous
Occurs in both sexes and in
all ages and races
Family history
Progressive myopathy
disorder
Suspected if
DIAGNOSI
S
Positive family hx
DIAGNOSI
S
Thorough family hx
Physical Exam
Enzyme Test
Electromyography
Genetic Analysis
Muscle Biopsy
Enzyme Test
Elevated creatine kinase (CK)
Indicate muscle disease
Electromyography
DIAGNOSI
S
Genetic Analysis
Deletions/duplications (70-80%)
Mutation scanning & sequence analysis
(20-30%)
Muscle Biopsy
Used to be important
Many cases diagnosed w/o
DIAGNOSI
S
Flaccid Dysarthria
SPEECH SOUND
CHARACTERISTI
CS
OF MD
Resonance
FLACCID
DYSARTHRI
A
Hypernasality
Nasal emission
Weak pressure consonants
Shortened phrases
Articulation
Imprecise consonant production
Weakness in articulators
Phonation
FLACCID
DYSARTHRI
A
Phonatory incompetence
Breathy voice quality (weak adductors)
Audible inhalation (weak abductors)
Respiration
Reduced vocal intensity
Strained vocal quality
Prosody
Monopitch
Monoloudness
TREATMEN
T
No cure
Medications:
Corticosteroids
Heart medications
Therapy and assistive devices:
Physical therapy: range-of-motion and stretching
exercises
Low-impact aerobic exercise
Braces
Canes, walkers, and wheelchairs
Sleep apnea device
Occupational therapy and speech therapy
Surgery
Current research
QUESTION 1
QUESTION 2
QUESTION 4
QUESTION 5
REFERENCE
S
Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R.,
Cripe, L., Constantin, C. (2010). Diagnosis and management of
Duchenne muscular dystrophy, part 1: Diagnosis, and
pharmacological and psychosocial management. The Lancet
Neurology , 9(1), 7793.
Freed, D.B. (2012). Motor speech disorders: Diagnosis and
treatment (2nd ed.). Clifton Park, NY: Delmar.
Webb, W.G. (2017). Neurology for the speech-language pathologist
(6th ed.). St. Louis, MO: Elsevier.