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16 Possible Causes for Muscle Biopsy showing Presence of Vacuoles, Small Hand

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    hands and feet, and at least two of the following: Low-set ears Widely spaced eyes Small lower jaw (mandible) Fifth-digit clinodactyly (curved pinky finger) Syndactyly or[rarediseases.info.nih.gov] In periodic paralysis muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked to the disease.[ajns.paans.org] Additional findings include small hands and feet, loose joints, and abnormal sideways curvature of the spine (scoliosis).[rarediseases.org]

  • Hypokalemic Periodic Paralysis

    Other outcomes and observations may include abnormally small hands and feet with unusually prominent veins on the trunk, short stature.[wikivisually.com] […] mandible, short stature, brachydactyly, microcephaly, short palpebral fissures, thin upper lip, small hands/feet, residual primary dentition, delayed bone age [16] ATS McManis[translational-medicine.com] […] hyperPP Percussion myotonia MC, PMC, PAM Physical exam with some of: fifth digit clinodactyly, ocular hypertelorism, low-set ears, webbed fingers/toes, broad nasal root, small[translational-medicine.com]

  • Myositis

    It usually affects small (ex: hands) and medium (ex: wrist) joints in a symmetric fashion similar to rheumatoid arthritis (RA), however myositis is generally considered less[arthritis.ca] In inclusion body myositis, findings on muscle biopsy may show the presence of vacuolated muscle fibers with basophilic granular deposits, the presence of varying degrees[rheumatologyadvisor.com] We excluded a small number of cases where conflicting data were identified.[ard.bmj.com]

  • Distal Myopathy Type 3

    People with CAV3 -related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood[ghr.nlm.nih.gov] The electromyograhy (EMG) shows a myopatic pattern and the muscles biopsy reveals dystrophic changes without the presence of rimmed vacuoles 1,4.[scielo.br] Early manifestations of weakness in small hand muscles and then spread to the distal leg muscles with foot drop.[neuroweb.us]

  • Paramyotonia Congenita

    Voluntary exercise of the hand muscles was performed at different hand temperatures, both before and after treatment with tocainide.[ncbi.nlm.nih.gov] Muscle biopsy - A muscle biopsy showing vacuoles confirms the presence of non-specific myopathy; however, it does not confirm a diagnosis of paramyotonia congenita.[symptoma.com] The muscle weakness may be confined to a small group of muscles e.g. the forearm and hand muscles alone resulting in weakness of grip.[mda.org.au]

  • Oculopharyngeal Muscular Dystrophy

    It affects the small muscles, such as those in the face, jaw, neck and hands. Myotonic dystrophy may start at any age from birth to old age.[patient.info] Muscle biopsy in the four affected patients showed variation in fiber size, and the presence of small angulated fibers and occasional rimmed vacuoles.[ncbi.nlm.nih.gov] Electron microscopic examination revealed an accumulation of filamentous inclusions in muscle fiber nuclei.[ncbi.nlm.nih.gov]

  • Proximal Myopathy with Extrapyramidal Signs

    The first dorsal interosseus is, I consider, the least difficult small hand muscle to examine.[jnnp.bmj.com] Muscle biopsy shows the presence of vacuoles, containing glycogen, in muscle fibers, which are present during an attack, and which may decrease in number immediately after[intranet.tdmu.edu.ua] Early manifestations of weakness in small hand muscles and then spread to the distal leg muscles with foot drop.[neuroweb.us]

  • Tangier Disease

    He had bilateral facial weakness, wasting of small muscles in the hands with the left hand being weaker than the right.[jnnp.bmj.com] Muscle biopsy demonstrated excess lipid vacuoles on histochemical and electron-microscopic techniques.[ncbi.nlm.nih.gov] Sural nerve biopsy showed a marked loss of large fibers and an increase in small myelinated fibers, with presence of remyelinating fibers and clusters of regeneration; a few[ncbi.nlm.nih.gov]

  • Carcinomatous Myopathic Syndrome

    The results of these tests can provide objective evidence of autonomic insufficiency and a measure of small-fiber function.[aafp.org] Muscle biopsy shows inflammation of muscle, fibre necrosis and the presence of vacuoles and filamentous inclusions in fibres (seen by electron microscopy).[somalidoc.com] Autonomic studies include determination of heart rate variation with respiration, heart rate response to standing/tilting, blood pressure response to sustained hand grip and[aafp.org]

  • Myopathy, Endocrine

    Skeletal Gigantism Coarse features Hands: Large Feet: Large Height : Increased Trigger finger (25%): Transient locking of fingers in flexion Proximal flexor tendon sheath[neuromuscular.wustl.edu] Muscle biopsy shows inflammation of muscle, fibre necrosis and the presence of vacuoles and filamentous inclusions in fibres (seen by electron microscopy).[somalidoc.com] In inclusion body myositis, findings on muscle biopsy may show the presence of vacuolated muscle fibers with basophilic granular deposits, the presence of varying degrees[rheumatologyadvisor.com]

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