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177 Possible Causes for Delayed Acquisition of Motor Skills, Presynaptic Defect at the Neuromuscular Junction

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    […] dominant [slow channel syndrome]) neuromuscular junction; not associated with antibodies to AChR; symptoms: usually begin in the neonatal period, ocular, bulbar, respiratory[neupsykey.com] Congenital myasthenia: heterogeneous disorder due to genetic defects in the presynaptic (mostly autosomal recessive) and postsynaptic (mostly autosomal recessive, some autosomal[neupsykey.com]

  • Déjerine-Sottas Disease

    acquisition of motor skills Mild loss of hearing Limitation in eye movements Reduced muscle tone This condition can be diagnosed from the symptoms as well as your child’s[kidbones.net] […] in acquisition of motor skills in childhood occasionally, limitation of eye movements or other eye problems occasionally, mild hearing loss How does Dejerine-Sottas Disease[mda.org.au] Occasionally there could be vision problems, hearing loss and delay in acquisition of motor skills in children. Treatment for this condition is symptomatic.[turmericforhealth.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    Abstract We studied 15 patients, from 10 families, who presented with severe spastic paralysis with an infantile onset and an ascending progression. Spastic paraplegia began during the first 2 years of life and extended to upper limbs within the next few years. During the first decade of life, the disease progressed[…][ncbi.nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Mowat-Wilson Syndrome

    The mental retardation, usually severe, was constant; the delay in the acquisition of motor skills was more variable (table 2).[doi.org]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Barth Syndrome

    acquisition of gross motor skills Exercise intolerance Muscle weakness Easily fatigued Chronic or recurrent diarrhea Feeding problems in infancy, "picky eating" in children[verywellhealth.com] […] of gross motor skills.[rarediseases.org] Barth syndrome is also associated with abnormally diminished muscle tone (hypotonia ), and muscle weakness (skeletal myopathy), that often leads to delays in the acquisition[medium.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Rigid Spine Syndrome

    Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion.[ncbi.nlm.nih.gov] Poor or decreased motor abilities, delay or arrest of motor milestones, and joint or spinal deformities are often the presenting features of CMD.[ncbi.nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Muscular Dystrophy-Dystroglycanopathy Type C2

    Primary Outcome Measures : MRI scan for qualitative analysis of muscle involvement [ Time Frame: One MRI scan per subject (exam lasts approximately 60 min.) ] The MRI protocol include T1-weighted brain and whole body examination. Four cross-sectional slices at shoulder, lumbar back, thigh and calf are chosen for[…][clinicaltrials.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Limb-Girdle Muscular Dystrophy Type 2Q

    Autosomal recessive limb-girdle muscular dystrophy-17 is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence (summary by Gundesli et al., 2010). For a discussion of genetic heterogeneity of[…][ncbi.nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Muscular Dystrophy-Dystroglycanopathy Type C4

    August 2017 ; 3 (4) Clinical/Scientific Notes Open Access Mateja Smogavec , Jana Zschüntzsch , Wolfram Kress , Julia Mohr , Peter Hellen , Barbara Zoll , Silke Pauli , Jens Schmidt First published July 10, 2017, DOI: Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of childhood- or adult-onset[…][ng.neurology.org]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Muscular Dystrophy-Dystroglycanopathy Type C1

    Chapter First Online: 27 June 2014 Abstract LGMD2K is caused by mutations in the POMT1 gene, encoding for O-mannosyl-transferase-1 protein (Table 16.1), and results from defective glycosylation of alpha-dystroglycan. This disorder represents the mildest end of the phenotypic spectrum of muscular dystrophies[…][link.springer.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction

Further symptoms