Disease Information for Muscular dystrophy, limb girdle type

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Clinical Manifestations
Signs & Symptoms
Weight loss in Children
Arm/shoulder weakness (symptom)
Bilateral Shoulder Muscle pain/Weakness
Flabby muscles
Gowers sign positive
Hypotonia
Leg fatigue
Muscle Atrophy
Muscle weakness
Pelvic/limb girdle weakness/bilateral
Proximal lower extremity weakness
Proximal muscle weakness
Proximal symmetrical muscle weakness
Symmetrical muscle involvement/stiffness
Unable to stand up from sitting position
Weak/Weak as a kitten (symptom)
Weakness climbing stairs
Weakness, legs, bilateral
Grip strength decreased
Limb weakness/signs
Unable to walk
Waddling Trendelenberg Gait
Weak lower extremities
Weakness/Diffuse motor loss
Child won't walk
Balance problems
Difficulty climbing stairs
Enervated/extreme acute fatigue
Falling
Muscle Wasting/Diffuse
Unable to stand
Weakness
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings - Increased
CPK/CK/Creatine kinase/Creatine phosphokinase (Lab)
Diagnostic Test Results
Pathology
BX/Muscle Biopsy Abnormal
BX/Muscle biopsy/Increased interstitial tissue
BX/Muscle/Non-uniform fiber size
Electrodiagnosis
EMG/Abnormal findings
EMG/Muscular Dystrophic signs
Associated Diseases & Rule outs
Rule Outs
Polymyositis
Associated Disease & Complications
Cardiomyopathy
Congestive heart failure
Muscular dystrophy
Muscular dystrophy, limb girdle type
Paraparesis
Heart Failure in a Child
Ineffective Cough or Reflex
Disease Mechanism & Classification
Class
CLASS/Extremities/Digits/Hand feet disorder (category)
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
Pathophysiology
Pathophysiology/Gene locus 6q23-q24
Pathophysiology/Gene locus Chromosome 7
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Defective dystrophin muscle cells
Pathophysiology/Gene locus Chromosome 7q
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Hereditofamilial (category)
PROCESS/Use/Age/atrophic disorder (category)
PROCESS/Muscular dystrophy disorder (ex)
Treatment
Other Treatments
TX/Physical therapy
Definition

A progressive disorder involving pelvic and scapular girdle muscles marked by weakness of proximal muscles of hip and shoulder areas with variable psychiatric disorders and occasional mild mental retardation; Type IA (LGMD1A) Synonym: proximal limb-girdle muscular dystrophy type 1A A slowly progressive form of muscular dystrophy affecting the proximal limb muscles but sparing the face; Type IB (LGMD1B) Synonym: proximal limb-girdle muscular dystrophy type 1B A slowly progressive form of muscular dystrophy differing from LGMD1A by the nasal quality of speech;

Type 2 (LGMD2, LGMD2A) Synonyms: Leyden-Mobius syndrome distal muscular dystrophy pelvofemoral muscular dystrophy pelvofemoral syndrome tibial muscular dystrophy Muscular dystrophy involving first the pelvic or, less commonly, shoulder girdle with occasional pseudohypertrophy of the calves with onset usually in childhood but sometimes in later stages of life; Muscle wasting tends to be asymmetric when the upper limbs are first involved; Progression of disease varies with inability to walk usually taking place at about 20 to 30 years of onset; Facial weakness and contractures may occur later; type 3 (LGMD3, LGMD2B) A slowly progressive form of muscular dystrophy involving the pelvic girdle with onset in the late teens; -----------------[OMIM website]------------------------------

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External Links Related to Muscular dystrophy, limb girdle type
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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