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34 Possible Causes for Intrafamilial Variability, Onset of Symptoms in First or Second Decade of Life, Shoulder Girdle Weakness

  • 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 intrafamilial variability is striking with two patients reporting no symptoms at ages 68 (IX-II-3) and 61 (XXXI-II-3), though mild iliopsoas weakness was documented on[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy Type 2E

    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] shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip).[orpha.net] Inter- and intrafamilial variability exists. Those with autosomal recessive disease may have an early onset.[emedicine.medscape.com]

  • 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] . 27 Intrafamilial variability has been reported in autosomal recessive LGMD, particularly in the sarcoglycanopathies, LGMD2C-2F. 28 Intrafamilial variability in LGMD2I has[nature.com]

  • Limb-Girdle Muscular Dystrophy Type 1E

    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] Commonly, pelvic girdle muscles are involved before and much more severely than shoulder girdle muscles.[clevelandclinicmeded.com] Inter- and intrafamilial variability exists. Those with autosomal recessive disease may have an early onset.[emedicine.medscape.com]

  • Limb-Girdle Muscular Dystrophy Type 2J

    An autosomal recessive degenerative myopathy (OMIM:608807) characterised by progressive weakness of the pelvic and shoulder girdle muscles.[medical-dictionary.thefreedictionary.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] Inter- and intrafamilial variability exists. Those with autosomal recessive disease may have an early onset.[emedicine.medscape.com]

  • 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] variability of phenotypic expression complete penetrance by fourth decade gene located at chromosome 4Q prevalence is 1 in 20,000 occurs equally in male and female ONSET:[gait.aidi.udel.edu]

  • Limb-Girdle Muscular Dystrophy Type 2Q

    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] […] 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] Inter- and intrafamilial variability exists. Those with autosomal recessive disease may have an early onset.[emedicine.medscape.com]

  • Muscular Dystrophy-Dystroglycanopathy Type C3

    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] Inter- and intrafamilial variability exists. Those with autosomal recessive disease may have an early onset.[emedicine.medscape.com]

  • Limb-Girdle Muscular Dystrophy

    Abstract Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of genetic myopathies characterized by progressive proximal pelvic and/or shoulder girdle[ncbi.nlm.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] : DMD-like to Adult onset myopathy Intrafamilial variability described Asymmetry : Some patients Progression Early onset: Non-ambulant by teens Later onset: Slow; Variable[neuromuscular.wustl.edu]

  • Muscular Dystrophy-Dystroglycanopathy Type C2

    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] 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] Soliman, "Cystic kidneys in fetal Walker–Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature", ة American[scholar.cu.edu.eg]

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