Disease Information for Facioscapulohumeral muscular dystrophy
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Atrophies Facioscapulohumeral, Atrophy Facioscapulohumeral, atrophy Landouz... (more)
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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An autosomal dominant degenerative muscle disease characterized by slowly p... (more) (edit)
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Demographics & Risk Factors[next]
- Population Group
- Population/Pediatrics population
- Sex & Age Groups
- Population/Child
- Population/Children/all
- Population Group
Clinical Manifestations[previous][top][next]
- Typical Clinical Presentation
- 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
- Signs & Symptoms
- Signs & Symptoms
- Child
- 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)
- Distal leg weakness
- Facial muscle wasting/sign
- Flaccid jaw
- 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 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
- Weak lid-closure ability
- Typical Clinical Presentation
Associated Diseases & Rule outs[previous][top][next]
- Rule Outs
- Associated Disease & Complications
Disease Mechanism & Classification[previous][top][next]
- 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)
- Class
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- Synonym
- Synonym/Landouzy-Dejerine muscular dystrophy
- Synonym
External Links Related to Facioscapulohumeral muscular dystrophy[previous][top]
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