Disease Information for Facioscapulohumeral muscular dystrophy

Clinical Manifestations
Signs & Symptoms
Facial Nerve Palsy/Facial Paralysis
Facial weakness/droop, unilateral
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Mask-like facies
Myopathic facies/snarling smile
Pouting expression
Transverse smile
Weakness facial muscles/symmetrical
Arm/shoulder weakness (symptom)
Bilateral Shoulder Muscle pain/Weakness
Distal leg weakness
Facial muscle wasting/sign
Flaccid jaw
Head Lag Infant Sign
Horizontal clavicles
Masseter muscle weakness
Muscle weakness
Neck weakness/head nodding
Popeye-like arms
Proximal muscle weakness
Proximal upper extremity weakness
Shoulder/limb girdle weakness/bilateral
Sternocleidomastoid muscle wasting
Unable to raise arm over shoulder
Unable to whistle
Weak/Weak as a kitten (symptom)
Winging of scapula
Facial muscle weakness/myopathy
Hyporeflexia/DTRs decreased
Limb weakness/signs
Poor head control/infant
Weakness/Diffuse motor loss
Difficulty raising arms
Enervated/extreme acute fatigue
Unable to do pushups
Difficulty Closing Eyelids
Lid Lag
Weak lid-closure ability
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Prognosis good/usually
Onset/Second decade
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Sex & Age Groups
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Diagnostic Test Results
BX/Muscle Biopsy Abnormal
BX/Muscle biopsy/Increased interstitial tissue
EMG/Abnormal findings
EMG/Muscular Dystrophic signs
Associated Diseases & Rule outs
Rule Outs
Bells palsy/Facial nerve paralysis
Myotonia atrophica
Facial Paralysis
Associated Disease & Complications
Coats disease/retinal exudative inflammation/disease
Congestive heart failure
Hypoventilation, alveolar
Muscular dystrophy
Heart Failure in a Child
Deafness Acquired
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
CLASS/Motor neuron/unit disorder (ex)
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
CLASS/Upper extremity involvement/disorder (ex)
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease/Adult manifestations
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Use/Age/atrophic disorder (category)
PROCESS/Muscular dystrophy disorder (ex)
PROCESS/Dystostosis/craniofacial (ex)
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An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle; The onset of symptoms usually occurs in the first or second decade of life; Affected individuals usually present with impairment of upper extremity elevation; This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicuaris oculi muscles; (Neuromuscul Disord 1997;7(1):55-62; Adams et al, Principles of Neurology, 6th ed, p1420)---------------------------------------.Myopathy, Scapuloperoneal; Scapuloperoneal Muscular Dystrophy; Scapuloperoneal Syndrome, Myopathic Type; Scapuloperoneal myopathy is a rare genetic disorder characterized by weakness and wasting of certain muscles; Symptoms are usually limited to the shoulder blade area (scapula) and the smaller of the two leg muscle groups below the knee (peroneal); Facial muscles may be affected in a few cases; The leg symptoms often appear before the shoulder muscles become weakened; The rate of progression of the disorder varies from case to case; This condition can also occur in combination with other disorders; Scapuloperoneal myopathy is inherited as an autosomal dominant trait; [NORD]



External Links Related to Facioscapulohumeral muscular dystrophy
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)