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671 Possible Causes for Mask-like Facies, Onset of Symptoms in First or Second Decade of Life, Shoulder Girdle Weakness

  • Facioscapulohumeral Muscular Dystrophy

    We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy.[ncbi.nlm.nih.gov] Symptoms Symptom onset usually occurs during the second decade of life, rarely in infancy or adulthood. Facial muscles are affect first.[symptoma.com] Criteria for early-onset FSHD were (1) signs or symptoms of facial weakness before the age of 5 years and (2) signs or symptoms of shoulder girdle weakness before the age[ncbi.nlm.nih.gov]

  • Secondary Myopathy

    Commonly, pelvic girdle muscles are involved before and much more severely than shoulder girdle muscles.[clevelandclinicmeded.com] Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[sites.google.com] , with the pelvic girdle musculature nearly always being more severely affected than the shoulder girdle muscles (presentation with shoulder girdle weakness is unusual).[jnnp.bmj.com]

  • Limb-Girdle Muscular Dystrophy Type 1E

    Commonly, pelvic girdle muscles are involved before and much more severely than shoulder girdle muscles.[clevelandclinicmeded.com] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] […] dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle[orpha.net]

    Missing: Mask-like Facies
  • X-linked Parkinsonism-Spasticity Syndrome

    Facioscapulohumeral dystrophy causes weakness and wasting of predominantly the face, shoulder girdle, and arms in teenagers.[britannica.com] […] the muscles of the shoulder and pelvic girdles are primarily affected.[britannica.com] Babies with these disorders may exhibit respiratory insufficiency, poor ability to suck, and severe limpness and weakness of all muscles except those of the face and eyes;[britannica.com]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Limb-Girdle Muscular Dystrophy Type 2L

    […] muscle weakness 0003749 Shoulder girdle muscle weakness Weak shoulder muscles 0003547 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have these[rarediseases.info.nih.gov] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] The characteristic weakness and degeneration of the muscles begins in the shoulder girdle or in the pelvic girdle.[medical-dictionary.thefreedictionary.com]

    Missing: Mask-like Facies
  • Muscular Dystrophy-Dystroglycanopathy Type C5

    […] muscle weakness 0003749 Shoulder girdle muscle weakness Weak shoulder muscles 0003547 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have these[rarediseases.info.nih.gov] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] […] dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle[orpha.net]

    Missing: Mask-like Facies
  • Congenital Merosin-Positive Muscular Dystrophy

    Decreased lung function due to weak breathing muscles 0002747 Scoliosis Abnormal curving of the spine 0002650 Shoulder girdle muscle weakness Weak shoulder muscles 0003547[rarediseases.info.nih.gov] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] The muscles of the pelvic and shoulder girdles and of the proximal limbs are predominantly affected, but in many patients involvement of the neck and facial mus- cles is found[docslide.com.br]

    Missing: Mask-like Facies
  • Sarcotubular Myopathy

    […] by pelvic girdle, shoulder girdle and quadriceps muscle weakness.[medical-dictionary.thefreedictionary.com] Symptoms of Sarcotubular myopathy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Mask-like facies Neck flexor weakness Weakness[familydiagnosis.com] […] of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life.[orpha.net]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Limb-Girdle Muscular Dystrophy Type 2E

    shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip).[orpha.net] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] Symptoms - Limb-girdle muscular dystrophy- type 2E Weakness Toe walking Muscle pain Muscle cramps Shoulder girdle muscle weakness Causes - Limb-girdle muscular dystrophy-[checkorphan.org]

    Missing: Mask-like Facies
  • Limb-Girdle Muscular Dystrophy Type 2B

    Erb\'s patient had only shoulder-girdle weakness and atrophy, with sparing of other muscles of the body and a benign disease course compared with that described by Duchenne[checkorphan.org] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] This form of muscular dystrophy presents with weakness of the pelvic and shoulder girdle, usually in late adolescence or early adulthood.[sema4genomics.com]

    Missing: Mask-like Facies