Muscular Dystrophy

Question 1

Diagnosis: causes damage to peripheral nerves, initially involves fibular nerve

Answer 1

Charcot Marie Tooth MD

Question 2

Signs and Symptoms: Distal limb muscle wasting and weakness. Bone deformities including Pes Cavus. Distal sensory loss

Answer 2

Charcot Marie Tooth

Question 3

Causes: most commonly inherited peripheral nerve disorder. May be inherited 3 different ways: X-linked, autosomal dominant, autosomal recessive

Answer 3

Charcot Marie Tooth

Question 4

Medical management: Avoidance of certain prescription drugs and alcohol which cause neuropathy and exacerbate symptoms

Answer 4

Charcot Marie Tooth

Question 5

PT Implications: Minimize deformity and prevent contractures, prevent pressure sores, balance training, orthotics/custom shoes

Answer 5

Charcot Marie Tooth

Question 6

Diagnosis: affects the face, shoulder blades and upper arms above all else

Answer 6

Fascioscapulohumeral MD

Question 7

Signs and Symptoms: Usually begins before age 20 with weakness and atrophy of the muscles around the eyes, mouth, shoulders, upper arms

Answer 7

Fascioscapulohumeral MD

Question 8

Causes: Autosomal dominant inherited condition causes shorter than usual segment of DNA on Chromosome 4

Answer 8

Fascioscapulohumeral MD

Question 9

Medical management: Scapular fixation surgery to stabilize shoulder blades by attaching them to ribs is often performed for this type of MD. Prescription of back braces/TLSO.
NSAIDs to manage musculoskeletal pain

Answer 9

Fascioscapulohumeral MD

Question 10

PT Implications: Ok to use back braces and orthosis to help with mobility and endurance. Moderate exercise can be helpful in muscles that are not severely weakened. UE functional training for ADLs.

Answer 10

Fascioscapulohumeral MD

Question 11

Diagnosis: Progressive neuromuscular disease that affects nervous system and heart. Affects function of the spinal cord, peripheral nerves, and cerebellum

Answer 11

Friedreich’s Ataxia

Question 12

Signs and Symptoms: Muscle weakness, spasticity , and ataxia

Answer 12

Friedreich’s Ataxia

Question 13

Causes: Autosomal recessive disease. Caused by defects, or mutations, in the frataxin gene. Frataxin protein regulates levels of iron in mitochondria so if missing or defective free iron accumulates in mitochondria causing damage

Answer 13

Friedreich’s Ataxia

Question 14

Medical Management: Management of heart disease with medications or pacemakers. Surgical procedures for foot deformities, scoliosis.

Answer 14

Friedreich’s Ataxia

Question 15

PT implications: Enhance flexibility, prevent contractures, refer to SLP for speech and swallowing concerns, interventions should target balance and coordination. Monitor for cardiac precautions. Assistive device training.

Answer 15

Friedreich’s Ataxia

Question 16

Diagnosis: Inflammation of muscles or tissues causes weakness. Typically occurs in men older than age 50.

Answer 16

Inclusion-Body Myositis

Question 17

Signs and Symptoms: Gradual onset slowly progressive weakness in wrists, fingers, and quads.
Trouble gripping, frequent tripping,

Answer 17

Inclusion-Body Myositis

Question 18

Causes: Some cases have a genetic cause but in most cases the cause is auto-immune from an unknown trigger, certain viruses might be associated.

Answer 18

Inclusion-Body Myositis

Question 19

Medical Management: Treatment with drugs that suppress the immune system (such as corticosteroids) have been tried but generally not effective.

Answer 19

Inclusion-Body Myositis

Question 20

PT Implications: Moderate intensity exercise is ok, there is no evidence of increased muscle inflammation following exercise.

Answer 20

Inclusion-Body Myositis

Question 21

Diagnosis: Group of disorders affecting voluntary muscles, mainly those around hips and shoulders.

Answer 21

Limb-Girdle MD

Question 22

Signs and Symptoms: Waddling gait. Difficulty with sit-to-stand and stairs. Difficulty with reaching overhead or carrying heavy objects. Heart complications. Respiratory function can decline over time

Answer 22

Limb-Girdle MD

Question 23

Causes: Can be inherited several ways, dominant or recessive. Has 19 forms classified by genetic flaws. 15 specific genes that lead to production of muscle proteins necessary for muscle function are flawed.

Answer 23

Limb-Girdle MD

Question 24

Medical management: Monitor cardiovascular and respiratory health

Answer 24

Limb-Girdle MD

Question 25

PT Implications: Functional training for ADLs and assistive devices. Prevent development of orthopedic deformities mainly in the shoulder and pelvic girdles (hyperlordosis, anterior pelvic rotation, flexion contractures of hip).

Answer 25

Limb-Girdle MD

Question 26

Diagnosis: Autoimmune disorder that attacks the receptor sites of the neuromuscular junction. Characterized by “grave muscular weakness”.

Answer 26

Myasthenia Gravis

Question 27

Signs and Symptoms: Partial paralysis of eye movements, double vision, ptosis (droopy eyelids), weakness in head/neck/jaw with problems chewing swallowing and holding head up. Affects women more than men.

Answer 27

Myasthenia Gravis

Question 28

Causes: Autoimmune disorder, cause is not well understood.

85% of people with this have antibodies against the acetocholine receptor in their blood.

Answer 28

Myasthenia Gravis

Question 29

Medical Management: medications including cholinesterase inhibitors, immunosuppressant drugs, plasmapheresis, and intravenous immunoglobulin.

Answer 29

Myasthenia Gravis

Question 30

PT Implications: Moderate exercise only, frequent rest periods. Monitor fatigue closely. Respiratory training with deep breathing and coughing techniques. Patients may experience periods of remission

Answer 30

Myasthenia Gravis

Question 31

Diagnosis: Presents with progressive muscle degeneration and weakness and difficulty relaxing muscles. Heart and breathing are both affected. Type 1 can affect internal organs including GI tract. Type 2 better overall prognosis with very slow progression.

Answer 31

Myotonic MD

Question 32

Signs and Symptoms: Cataracts early in life. Generalized muscle weakness throughout the body. Weakness and loss of muscle bulk in face, head, neck, and jaw lead to characteristic appearance of long, thin face. Early balding in males.
Weakness in shoulders, upper arms, hips, thighs and neck. Inflammation of heart and lung tissue. More common in females than males.

Answer 32

Myotonic MD

Question 33

Causes: Both Type 1 and 2 are both caused by abnormally expanded stretches of DNA.
Type 1 is located on a gene in chromosome 19. Type 2 is located on chromosome 3.
Both are autosomal dominant.

Answer 33

Myotonic MD

Question 34

Medical management: Treatment aimed at managing the symptoms including heart complications (arrhythmias), impairments in esophagus during swallowing, constipation managed with bowel schedules and medication. Surgical removal of cataracts, caution with anesthesia.

Answer 34

Myotonic MD

Question 35

PT Implications: Management of pain, painful stiffness in legs, orthotics/assistive devices to manage foot drop, devices to place hand/wrist in good position for typing, writing. Moderate intensity exercise indicated.

Answer 35

Myotonic MD

Question 36

What 4 types of MD are associated with cardiac problems?

Answer 36

Friedreich’s Ataxia, Myotonic, Polymyositis, Limb-girdle

Question 37

Diagnosis: Autoimmune disorder that affects muscles or associated tissues such as blood vessels that supply the muscles. Usually begins after age 20.

Answer 37

Polymositis

Question 38

Signs and Symptoms: Weakness in shoulders, upper arms, hips, thighs and neck. Inflammation of heart and lung tissue. More common in females than males.

Answer 38

Polymositis

Question 39

Causes: Autoimmune disorder of unknown cause. Reports of this have occurred following exposure to certain drugs (carticaine, interferon alpha, Hep B vaccine).

Answer 39

Polymositis

Question 40

Medical management: Highly treatable disease.
Several years of treatment to suppress immune system may be necessary. Some need low dose medication to control autoimmune response for their whole life. First line treatment is corticosteroids.

Answer 40

Polymositis

Question 41

PT Implications: Careful monitoring with low intensity exercise during early stages to avoid rhabdomyolysis. Gently progressive PT can help maintain strength. ROM particularly of the shoulders are effective. Assistive device and functional training for any residual weakness after medical treatment.

Answer 41

Polymyositis

Question 42

What 3 types of MD are associated with an Autoimmune response?

Answer 42

Polymositis, Myasthenia Gravis, Inclusion-Body Myositis