Create issue ticket

6 Possible Causes for Internal Nuclei Seen on Muscle Biopsy

  • Chudley-Rozdilsky Syndrome

    nuclei congenital, nonprogressive myopathy variation in fibrodiameter seen on muscle biopsy atrophy of type i fibers more Laboratory Abnormalities: normal growth hormone[malacards.org] Genitalia Female: hypogonadotropic hypogonadism Neurologic Central Nervous System: mental retardation, severe small sella Muscle Soft Tissue: mild muscle weakness internal[malacards.org] Endocrine Features: hypogonadotropic hypogonadism Head And Neck Face: facial weakness Skeletal Spine: lumbar lordosis, exaggerated Growth Height: short stature Genitourinary Internal[malacards.org]

  • Multicore Myopathy

    nuclei congenital, nonprogressive myopathy variation in fibrodiameter seen on muscle biopsy atrophy of type i fibers more Laboratory Abnormalities: normal growth hormone[malacards.org] Genitalia Female: hypogonadotropic hypogonadism Neurologic Central Nervous System: mental retardation, severe small sella Muscle Soft Tissue: mild muscle weakness internal[malacards.org] Endocrine Features: hypogonadotropic hypogonadism Head And Neck Face: facial weakness Skeletal Spine: lumbar lordosis, exaggerated Growth Height: short stature Genitourinary Internal[malacards.org]

  • Spastic Ataxia with Congenital Miosis

    , SOFT TISSUE: Lymphedema; Nonspecific myopathic changes seen on muscle biopsy; Increased internal nuclei; Small round skeletal muscle fibers NEUROLOGIC: [Central nervous[findzebra.com] […] system]; Lack of psychomotor development; Seizures, intractable; Burst-suppression pattern seen on EEG; Lissencephaly; Agyria; Cerebellar hypoplasia; Agenesis of the corpus[findzebra.com] […] the mouth; [Neck]; Short neck RESPIRATORY: Shallow breathing SKELETAL: Arthrogryposis multiplex; [Hands]; Clenched hands SKIN, NAILS, HAIR: [Hair]; Low hairline; Hirsutism MUSCLE[findzebra.com]

  • Uterine Radium Implant

    , SOFT TISSUE: Proximal muscle weakness (in some patients); Proximal muscle atrophy (in some patients); Myopathic pattern seen on EMG (in some patients); Internal nuclei seen[findzebra.com] […] on biopsy (in some patients); Muscle fiber splitting (in some patients); Increased connective tissue (in some patients); Disruption plasma membrane (in some patients) ENDOCRINE[findzebra.com] ]; Joint hypermobility; Arthralgia; Joint subluxation SKIN, NAILS, HAIR: [Skin]; Hyperextensible skin; Easy bruisability; No scarring; Velvety skin; Normal wound healing MUSCLE[findzebra.com]

  • Infantile Onset Autophagic Vacuolar Myopathy

    . • Muscle biopsy shows muscle atrophy.[slideshare.net] Typically, numerous internalized nuclei can be seen in individual muscle fibers as well as atrophic fibers with pyknotic nuclear clumps. • EMG shows myotonia. • Treatment:[slideshare.net]

  • Distal Myopathy with Early Respiratory Muscle Involvement

    Muscle biopsyMuscle atrophy – Selectively involves type 1 fibers in 50% of cases – Ringed fibers in DM1 but not in DM2• Typically, numerous internalized nuclei can be seen[slideshare.net]

Further symptoms