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17 Possible Causes for Mild Contractures of the Hands, Tongue Weakness, Vacuolization

  • Distal Myopathy Type 3

    There was very mild proximal weakness of the upper limbs muscles, and moderate weakness of the finger extensors and intrinsic hand muscles accompanied by wasting.[] Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[] (ie, tongue and pharyngeal weakness) is manifested by symptoms of dysarthria and dysphagia.[]

  • Zebra Body Myopathy

    Hand involvement was particularly notable, including wrist and finger drop (in particular, digits 3-5).[] 0003236 5 limb-girdle muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006785 6 waddling gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002515 7 rimmed vacuoles[] Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.[]

  • Diabetes Mellitus

    The contractures are usually mild, however, and rarely require surgery. 6 Figure 3 Dupuytren’s contracture of the hand.[] Vacuoles and clefts form in the underlying cortex. Intumescence and maturity of the cortical cataract follow shortly thereafter.[] Early symptoms include: Confusion Dizziness Feeling shaky Hunger Headaches Irritability Pounding heart ; racing pulse Pale skin Sweating Trembling Weakness Anxiety Without[]

  • Autosomal Dominant Myoglobinuria

    The degree of joint contractures is variable from mild to severe and the most severe form of hand arthrogryposis results in the clenched fists and ulnar deviation of the wrist[] The vacuoles also stain intensely to acid phosphates, confirming that the vacuoles filled with glycogen are secondary lysosomes.[] Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.)[]

  • Neurogenic Arthrogryposis Multiplex Congenita

    A sporadic form with mild symptoms which gradually improve, which is manifested main by moderate contractures and normal intelligence.[] Homotypic fusion and vacuole protein sorting (HOPS) complexes regulate intracellular vesicle docking through interaction with SNAREs (see OMIM:604026 ).[] Tongue fasciculations Micrognathia Short nose Proximal amyotrophy Camptodactyly of finger Joint stiffness Spinal muscular atrophy Arthrogryposis multiplex congenita Decreased[]

  • Vacuolar Neuromyopathy

    Mild contractures of the hands may be present. Onset has ranged from 32-45 years of age.[] On biopsy, there was a lipid storage myopathy, lipid containing vacuoles in leukocytes, and vacuoles in Schwann cells.[] Other regions: Some patients Cranial nerves: Face; Tongue Posterior neck : Head ptosis Back: Camptocormia Asymmetric : Often Progression Slow: Over 1 to 2 decades To severe[]

  • Spastic Ataxia with Congenital Miosis

    Children develop contractures of the large joints, giving them a typical posture. Hands and feet are disproportionally large. Dental caries is prominent.[] weakness of sternomastoids and trapezius, try to elicit downbeat nystagmus, check for facial sensory loss).[] Flaccid weakness and atrophy of the sternocleidomastoid and trapezius muscles and the tongue also occurs.[]

  • Nemaline Myopathy Type 4

    The distal arthrogryposis syndromes associated with TPM2 mutations include the less severe forms, with congenital contractures mainly of the hands and feet and mild or no[] Congenital muscular dystrophy Congenital myasthenic syndrome Congenital myopathy Desminopathy Distal ABD-filaminopathy Distal anoctaminopathy Distal myopathy with rimmed vacuoles[] People with nemaline myopathy can have weakness in their leg, arm. neck and trunk muscles, accompanied by some mild weakness of the face, tongue and throat muscles.[]

  • Ehlers-Danlos Syndrome

    At birth severe hypotonia with an abnormal position of hands and contractures of both feet, as well as velvety skin were noted.[] A smooth muscle cell from the media of DSLD-affected aorta reveals the presence of numerous cytoplasmic vacuoles (*).[] You may even can use your tongue to touch the tip of your nose.[]

  • Miyoshi Myopathy Type 3

    Mild contractures of the hands may be present. Onset has ranged from 32-45 years of age.[] : Few Distal dystrophy Rimmed vacuoles Dominant DNAJB6 7q36 10 to 50 years Legs: Distal Normal, or Slight Myopathic Vacuoles HIBM1 Dominant Desmin 2q35 25 to 40 years Legs[] Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.)[]

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