10. Clinical Features
• Progressive muscle paresis and atrophy- starts with proximal lower
limbs
• Weak reflexes
• Waddling gait (i.e. Duchenne limp) with bilateral Trendelenburg sign
• Gower maneuver
• Classic sign of DMD, but also occurs in inflammator
myopathies (e.g., dermatomyositis, polymyositis) and other
muscular dystrophies (e.g., BMD)
12. • Calf pseudohypertrophy
• Scoliosis:
Inability to walk by approx. 12 years of age
Cardiac and respiratory muscle involvement
• Dilated cardiomyopathy: common cause of death
• Cardiac arrhythmias
• Respiratory insufficiency
• Cognitive impairment
In late stages: nocturnal hypoventilation, dysphagia,
vomit, diarrhea, and constipation
• rarely intestinal pseudo-obstruction
13.
14. Becker muscular dystrophy (BMD)
• Symptoms similar to those of DMD, but less severe
• Slower progression (patients often remain
ambulatory into adult life)
• Heart involvement is more common compared
to DMD.
15. Laboratory findings
• Serum enzymes – CPK raised
• Nerve conduction velocity- motor & sensory
conduction measured electrophysiologically
• Electromyelography - records maximum
voluntary contraction of muscle
16. Laboratory findings
• Muscle biopsy – most important, specific and
diagnostic (Vastus lateralis)
DMD: absent dystrophin
BMD: reduced dystrophin
• Nerve biopsy (sural nerve)
• ECG-cardiac evaluation in myopathies
17.
18. Medical therapy
• DMD
• Glucocorticoids (e.g., prednisone, deflazacort)
• Eteplirsen
• An antisense oligonucleotide that binds to exon 51 leads to skipping of
this exon
• Results in production of truncated but functional dystrophin protein
• Can only be used in individuals with mutations within exon 51 of
the dystrophin gene
• BMD:
• Glucocorticoids may be used, although their efficacy is low.
19. Supportive therapy
• Physiotherapy to reinforce preserved muscles (including
respiratory muscles training) and to prevent contractures
• Orthopedic assistive devices (wheelchair, walkers)
• Psychological support
• Ventilation support
• If necessary, surgical treatment of the contractures,
correction of scoliosis
20. Complex Regional Pain Syndrome
• Complex Regional Pain Syndrome
(CRPS), is a rare and poorly
understood condition that typically
affects one or more limbs, but can
also affect other parts of the body.
• It is characterized by severe and
persistent pain, swelling, and
changes in skin temperature and
color in the affected area.
21.
22.
23. Presenting Complaints
Common symptoms and complaints
• Severe and persistent pain in the affected limb or area
• Swelling and/or stiffness of the affected limb
• Changes in skin temperature and color in the affected area
(e.g., the skin may be red or blue)
• Abnormal sweating in the affected area
• Skin sensitivity to touch or temperature changes
24. Common symptoms and complaints
• Muscle weakness and decreased range of motion
• Tremors or involuntary movements in the affected limb
• Difficulty sleeping due to pain or discomfort
• Emotional and psychological symptoms, such as anxiety
or depression, related to chronic pain and disability
• In some cases, individuals with CRPS may also experience
other symptoms, such as changes in hair or nail growth,
muscle spasms, or digestive problems.
25. • Patient education: Explain that the condition, although painful, is not a
result of ongoing tissue damage in the region.
• Psychological interventions: identification and treatment of
psychological factors that contribute to pain; treatment of
comorbid anxiety or depression; relaxation techniques
• Physical and occupational therapy: first-line therapy
• Ensuring daily function and motion of the affected limb
• Desensitization techniques
• Lymph drainage for the treatment of edema
• Hot/cold contrast therapy
26. Medical therapy
Indicated for pain management, which facilitates
movement of the affected limb
• NSAIDs and glucocorticoids
• Anticonvulsants or low-dose tricyclic antidepressants:
may help if the pain is neuropathic in nature
• Topical lidocaine or capsaicin cream
• Medications that slow bone resorption
• Calcitonin
• Bisphosphonates
27. Interventional procedures
Indicated in patients who do not improve with
noninvasive therapy
•Trigger point injections,
•regional sympathetic nerve block
•spinal cord stimulation
28. Fibromyalgia
• Chronic functional neurosensory disorder of unknown
etiology
• Genetic predisposition
• Autoimmune
• Environmental triggers (e.g., physical or psychosocial stress)
• Dysregulation of the neuroendocrine and autonomic nervous
systems
29. Cardinal symptoms of fibromyalgia
• Diffuse chronic musculoskeletal pain
• Distribution: all or most regions of the body
• Character: variable, often neuropathic, without objective
pathologic findings
• Fatigue
• Unrefreshing sleep
30.
31. Patient education
•Exercise: There is strong evidence to support the benefits of
aerobic and strengthening exercises.
•Reassurance: Fibromyalgia is not a progressive illness and
does not result from muscle or nerve damage.
•Validation: Symptoms can be overwhelming and disabling.
•Coping strategies: e.g., relaxation techniques
•Sleep hygiene
