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19 Possible Causes for Delay in Gross Motor Development due to Weakness, Subsarcolemmal Accumulation of Normal Mitochondria

  • Carnitine Transporter Deficiency

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Laboratory studies Normal CK Elevated lactate and alanine in serum, urine and/or CSF [10] Treatment : mainly supportive References: [13] [14] [15] [16] [17] [11] [18] [10][amboss.com] […] myopathies ” below Diagnostics Genetic studies (including mitochondrial DNA ) Muscle biopsy : immunohistochemistry typically shows " ragged red fibers ", which are caused by subsarcolemmal[amboss.com]

  • Stapedectomy

    , delayed gross motor development Arthrochalasis Type : Hip dislocation at birth, severe joint hypermobility Dermatosparaxis Type : Severe skin fragility and bruising, soft[web.archive.org] […] to arterial or organ rupture, facial characteristics, shortened life expectancy Kyphoscoliosis Type : Severely weak muscle tone and joint laxity at birth, fragile tissues[web.archive.org] […] skin, wide scars, joint hypermobility Hypermobility Type : Hypermobility of joints, common joint dislocations, chronic joint and limb pain Vascular Type : Most serious type due[web.archive.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • MELAS Syndrome

    Initially the muscle biopsy may show only muscle fibers with subsarcolemmal accumulation of mitochondria without typical RRF, but all patients with MELAS have RRF in the course[scielo.br] The biochemical analysis of respiratory chain complexes may be normal in some cases. WHAT ARE THE HISTOLOGICAL FEATURES?[scielo.br]

    Missing: Delay in Gross Motor Development due to Weakness
  • Chronic Progressive External Ophthalmoplegia

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Laboratory studies Normal CK Elevated lactate and alanine in serum, urine and/or CSF [10] Treatment : mainly supportive References: [13] [14] [15] [16] [17] [11] [18] [10][amboss.com] […] myopathies ” below Diagnostics Genetic studies (including mitochondrial DNA ) Muscle biopsy : immunohistochemistry typically shows " ragged red fibers ", which are caused by subsarcolemmal[amboss.com]

    Missing: Delay in Gross Motor Development due to Weakness
  • Danon Disease

    There was an increase in glycogen granules with subsarcolemmal accumulation.[circ.ahajournals.org] Mitochondria appeared to be of normal density with no demonstrable abnormal cristae pattern or intramitochondrial inclusions.[circ.ahajournals.org]

    Missing: Delay in Gross Motor Development due to Weakness
  • Familial Infantile Bilateral Striatal Necrosis

    […] myelination Muscular hypotonia of the trunk Congestive heart failure Infantile onset Hyperreflexia Wrist drop Spinal deformities Delayed gross motor development Increased[mendelian.co] […] body weight Poor head control Decreased nerve conduction velocity Respiratory insufficiency due to muscle weakness Extrapyramidal dyskinesia Hypoglycemia Lactic acidosis[mendelian.co] Restlessness Opisthotonus Myopathy Hepatomegaly Cardiomyopathy Poor suck Acidosis Left ventricular hypertrophy Ventricular hypertrophy Impaired smooth pursuit Leukodystrophy Delayed[mendelian.co]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Zebra Body Myopathy

    […] connective tissue Ophthalmoparesis Congenital hip dislocation Delayed gross motor development Joint hypermobility Kyphoscoliosis High palate Muscular hypotonia Fatty replacement[mendelian.co] Neonatal hypotonia Myalgia Scapular winging Proximal amyotrophy Centrally nucleated skeletal muscle fibers Torticollis Respiratory insufficiency Respiratory insufficiency due[mendelian.co] […] to muscle weakness Steppage gait Confusion Ophthalmoplegia Scapuloperoneal amyotrophy Scapuloperoneal myopathy Ptosis Cardiomyopathy Easy fatigability Muscle cramps Increased[mendelian.co]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Nemaline Myopathy Type 5

    gross motor development Commonly - More than 50% cases EMG: myopathic abnormalities Not very common - Between 30% and 50% cases Respiratory insufficiency due to muscle weakness[mendelian.co] Proximal amyotrophy Not very common - Between 30% and 50% cases Nemaline bodies Commonly - More than 50% cases Hip contracture Not very common - Between 30% and 50% cases Delayed[mendelian.co]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Congenital Hemihypertrophy

    gross motor development Frequent falls Easy fatigability Ophthalmoparesis Pyloric stenosis EMG: myopathic abnormalities External ophthalmoplegia Respiratory insufficiency[mendelian.co] due to muscle weakness Nephroblastoma Carcinoma Exercise-induced myalgia Abnormal lower motor neuron morphology Encephalocele Cleft lip Abnormal heart morphology Talipes[mendelian.co] […] muscle hypertrophy Cavernous hemangioma Type 1 muscle fiber predominance Areflexia of lower limbs Drowsiness Large for gestational age Mildly elevated creatine phosphokinase Delayed[mendelian.co]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Juvenile Cystinosis

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Laboratory studies Normal CK Elevated lactate and alanine in serum, urine and/or CSF [10] Treatment : mainly supportive References: [13] [14] [15] [16] [17] [11] [18] [10][amboss.com] […] myopathies ” below Diagnostics Genetic studies (including mitochondrial DNA ) Muscle biopsy : immunohistochemistry typically shows " ragged red fibers ", which are caused by subsarcolemmal[amboss.com]

    Missing: Delay in Gross Motor Development due to Weakness

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