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248 Possible Causes for Severe Muscle Hypotonia at Birth

  • Muscular Dystrophy

    This CM presents with severe hypotonia and weakness at birth or prenatally and may be fatal in infancy.[neuropathology-web.org] Patients with CCD have hypotonia and weakness at birth or starting in infancy. Most patients have a normal lifespan but severe forms of CCD may be fatal in infancy.[neuropathology-web.org] The product of SEPN1 interacts with the ryanodine receptor in regulating calcium homeostasis in muscle.[neuropathology-web.org]

  • Ehlers-Danlos Syndrome Type 4

    […] myopathy, and hearing loss Severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, elastic skin, myopathy, hearing loss Recessive FKBP14 FKBP14-Related[uwcpdx.org] muscle hypotonia at birth.[emedicine.medscape.com] muscle hypotonia at birth Progressive scoliosis present from birth Scleral fragility or rupture of ocular globe Tissue fragility (atrophic scarring); eary bruising Arterial[physio-pedia.com]

  • Lafora Disease

    At birth, both babies showed severe hypotonia, hyporeflexia and no spontaneous breathing activity.[link.springer.com] A muscle biopsy revealed, in both patients, the presence of PAS-positive and partially diastase-resistant cytoplasmic inclusions containing granular and filamentous amylopectin-like[link.springer.com]

  • Progressive Muscular Atrophy

    Defects may lie at the level of the muscles. Types of hypotonia Hypotonia may be seen at birth or later.[news-medical.net] It may lead to severe neurological deficits, retardation, seizures and hypotonia or hypertonia (increased muscle tone).[news-medical.net] […] affliction of the brain of the new born with bilirubin from the jaundice right after birth.[news-medical.net]

  • Neurogenic Arthrogryposis Multiplex Congenita

    muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in[mendelian.co] […] match EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS; EDSKMH This autosomal recessive form of Ehlers-Danlos syndrome is characterized by severe[mendelian.co]

  • Ehlers Danlos Syndrome

    muscle hypotonia at birth, and kyphoscoliosis.[ncbi.nlm.nih.gov] […] myopathy, and hearing loss Severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, elastic skin, myopathy, hearing loss Recessive FKBP14 FKBP14-Related[uwcpdx.org] muscle hypotonia at birth Scoliosis at birth, progressive Scleral fragility and rupture of the ocular globe V, arthrochalasia type Autosomal dominant Severe generalized joint[doi.org]

  • Ehlers-Danlos-Syndrome Type 10

    […] myopathy, and hearing loss Severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, elastic skin, myopathy, hearing loss Recessive FKBP14 FKBP14-Related[uwcpdx.org] muscle hypotonia at birth.[emedicine.medscape.com] […] kyphoscoliosis, hypotonia, thin skin, easy bruising, atrophic scarring, joint hypermobility Recessive CHST14 Comprehensive EDS Panel EDS with progressive kyphoscoliosis,[uwcpdx.org]

  • Distal Spinal Muscular Atrophy Type 3

    SMA Type 1 Also known as, Werdnig-Hoffmann acute infantile, non-sitters, occur birth up to 6 months (95% by 3 months) Severe, progressive muscle weakness and flaccid or[slideshare.net] They have extremely weak muscle tone (hypotonia) at birth. Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure.[ghr.nlm.nih.gov] […] reduced muscle tone (hypotonia). Bulbar dysfunction includes poor suck ability, reduced swallowing, and respiratory failure. Patients have no involvement of the extraocular[slideshare.net]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    They have extremely weak muscle tone (hypotonia) at birth. Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure.[ghr.nlm.nih.gov] […] at birth, or shortly thereafter; muscle biopsy indicative of neurogenic atrophy involving both fiber types; histology consistent with Werdnig-Hoffmann; EMG indicative of[nature.com] Spinal muscular atrophy type 0 is evident before birth and is the rarest and most severe form of the condition.[ghr.nlm.nih.gov]

  • Arthrogryposis due to Muscular Dystrophy

    Severe hypotonia, weak cry and bilateral clubfoot were noted at birth.[scilit.net] She was the first child of young, healthy and non consanguineous parents that informed to be unaware of muscle disease in their families. Her younger sister is healthy.[scilit.net]

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