Disease Information for Facioscapulohumeral muscular dystrophy

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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
Hypotonia
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
Snoring
Difficulty raising arms
Enervated/extreme acute fatigue
Unable to do pushups
Weakness
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
Course/Progressive
Onset/Childhood
Onset/Second decade
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Diagnostic Test Results
Pathology
BX/Muscle Biopsy Abnormal
BX/Muscle biopsy/Increased interstitial tissue
Electrodiagnosis
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
Cardiomyopathy
Coats disease/retinal exudative inflammation/disease
Congestive heart failure
Deafness
Hypoventilation, alveolar
Kyphoscoliosis
Muscular dystrophy
Heart Failure in a Child
Deafness Acquired
Disease Mechanism & Classification
Class
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
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease/Adult manifestations
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Use/Age/atrophic disorder (category)
PROCESS/Muscular dystrophy disorder (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Atrophies Facioscapulohumeral, Atrophy Facioscapulohumeral, atrophy Landouzy Dejerine, atrophy Landouzy Déjerine, Dystrophies Facioscapulohumeral Muscular, Dystrophies Landouzy Dejerine, Dystrophy Facioscapulohumeral Muscular, Dystrophy Landouzy Dejerine, dystrophy Landouzy Déjerine, dystrophy muscular facioscapulohumeral, dystrophy muscular Landouzy Dejerine type, dystrophy muscular Landouzy Déjerine type, Facioscapulohum muscul dystrop, Facioscapulohumeral Atrophies, Facioscapulohumeral Atrophy, Facioscapulohumeral Muscular Dystrophies, Facioscapulohumeral muscular dystrophy, Facioscapulohumeral muscular dystrophy (disorder), FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A, facioscapulohumeral myopathy, Facioscapulohumeral Type Progressive Muscular Dystrophy, Fascioscapulohumeral muscular dystrophy, FMD, FMD Facioscapulohum musc dys, FMD Facioscapulohumeral muscular dystrophy, FSH Facioscapulohumeral muscular dystrophy, FSH Facioscaplhum muscul dystr, FSHD, FSHD Facioscapulohumeral muscular dystrophy, FSHD Facioscapulohum musc dyst, FSHD1A, FSHMD1A, Landouzy Dejerine atrophy, Landouzy Déjerine atrophy, Landouzy Dejerine Dystrophies, Landouzy Dejerine Dystrophy, Landouzy Déjerine dystrophy, Landouzy Dejerine dystrophy or facioscapulohumeral atrophy, Landouzy Déjerine dystrophy or facioscapulohumeral atrophy, Landouzy Dejerine muscul dystr, Landouzy Dejerine muscular dystrophy, Landouzy Déjérine muscular dystrophy, Muscular Dystrophies Facioscapulohumeral, MUSCULAR DYSTROPHY FACIOSCAPULOHUMERAL, MUSCULAR DYSTROPHY FACIOSCAPULOHUMERAL TYPE 1A, Muscular dystrophy fascioscapulohumeral, Muscular dystrophy Landouzy Dejerine, muscular dystrophy Landouzy Dejerine type, muscular dystrophy Landouzy Déjerine type, myopathy facioscapulohumeral, Progressive muscular dystrophy facioscapulohumeral type, Progressive muscular dystrophy Landouzy Dejerine type, Synonym/Landouzy-Dejerine muscular dystrophy
Definition

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]

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