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21669937
Ahmad can't run
Description
Mind Map on Ahmad can't run, created by Samah Kannas on 29/03/2020.
Mind Map by
Samah Kannas
, updated more than 1 year ago
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Created by
Samah Kannas
over 4 years ago
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Resource summary
Ahmad can't run
5 years old boy with muscle weakness
History Taking
Examination
Investigations
Serum CK test
High
EMG
Myopathic changes & no nerve lesions
TFT
Normal
Muscle biopsy
Absence of Dystrophin
Pedigree
X-linked recessive disease
Neurological examination
assess the dermatomes and test for any UMNL \ LMNL
Normal , no sensory loss , no spinal cord abnormality
No focal neurological symptoms
Physical examination
On inspection
Pes cavus deformity
High medial arch of the foot
what maintain these arches
Bones of the foot and their shape
Ligaments
Muscles and their tendons
to protect the Neurovascular structures of the foot
Arteries
Nerves
Lordotic posture
Wadding gait
Gowers' sign
Tip toe gait
On palpation
Weakness in the muscles of the gluteal & thigh region 4\5
Tenderness
Pseudohypertrophy of calf muscles
Onset
Review of systems
Birth History
consanguinity
Family history
past medical history
No past surgeries
No used medications
The uncle died at age of 16 due to repiratory failure
Not present
Normal
No heart \ lung or kidney problems
Chronic
No history of trauma
No history of infection
Differential Diagnosis
Neuropathy
Stroke
UMNL \ LMNL
--
Herniated disc
MS
Polio \ Gullian- Barre
--
Charcot - Marie tooth disease
--
Spinal muscular atrophy
--
Myopathy
Myositis
Polymyositis
Dermatomyositis
Metabolic disorders
Mitochondrial diseases
Amylotrophic lateral sclerosis
Muscular Dystrophy
Autosomal dominant
Oculopharyngeal muscular dystrophy
Sex-Linked
Duchenne muscle dystrophy
Gene etiology and pathogenesis
Stages & Prognosis
Management
Gene replacement
Stem cells therapy
Physiotherapy
A mutation in the DMD gene ( Xp21) which is responsible for the synthesis of Dystrophin protein
Dystrophin is a cytoplasmic protein that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix
Lower levels of Dystrophin = loss of protection and mechanical damage to the sarcolemma when eccentric contraction happen
Calcium goes inside and cytokine outside , then cells death occurs
<=
Muscle weakness starts to be noticed especially in the LL and calf muscles try to compensate
+
+
+
<=
=>
=>
The most common genetic muscular dystrophy , rapidly progressive and affect male mainly
Becker muscular dystrophy
Milder form of DMD
Emery–Dreifuss muscular dystrophy
50% the male son is affected
50% a female daughter is carrier
+
Autosomal Recessive
Facioscapulohumeral muscular dystrophy
Limb-girdle muscular dystrophy
+
Pregnancy
Aging
Trauma
--
Thyroid gland dysfunction
--
Media attachments
Image Asset (binary/octet-stream)
Foot Nerves600 (binary/octet-stream)
Ankle Sprain Blog Photo 1 (binary/octet-stream)
Img Arteries Foot (binary/octet-stream)
Dee066a4b0f9c5c34e8c5827d10f3f02 (binary/octet-stream)
Duchenne Muscular Dystrophy 9 638 (binary/octet-stream)
Duchenne+Muscular+Dystrophy (binary/octet-stream)
Foot Stress Fracture Bones800 800x426 (binary/octet-stream)
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