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14 Possible Causes for Diffuse Hypotonia, Onset of Symptoms in First or Second Decade of Life, Psychomotor Retardation

  • Congenital Muscular Dystrophy

    Respiratory insufficiency and orthopedic complications may become severe, with diffuse joint contractures and spinal rigidity.[ncbi.nlm.nih.gov] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels.[ncbi.nlm.nih.gov]

  • Pseudo-Zellweger Syndrome

    […] examination (hypotonia, vomiting, hypothermia, seizures, bulging fontanel, rapidly increasing head circumference).[mrineonatalbrain.com] Similarly, the single patient with sterol carrier protein X (SCPX, now named SCP2) deficiency first experienced neurologic symptoms in the second decade of life ( Ferdinandusse[medlink.com] Migrational abnormalities are the most likely causes of the severe seizures and psychomotor retardation associated with many types of peroxisomal disorders.[repository.innermed.eu]

  • Myoadenylate Deaminase Deficiency

    The infantile form presents in first few weeks to years of life with diffuse hypotonia and weakness of the muscles.[annalsofneurosciences.org] Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[sites.google.com] We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood[ncbi.nlm.nih.gov]

  • Emery-Dreifuss Muscular Dystrophy Type 2

    The older sib had a difficult birth and showed congenital hypotonia, diffuse weakness, and mild initial respiratory and feeding difficulties.[olox.pro] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] Retardation, and Distinctive Facial Features 1 Cleidocranial Dysostosis 2 COACH Syndrome 2 Cockayne Syndrome Type I 2 Cockayne Syndrome, Type B 2 Coenzyme Q10 Deficiency[preventiongenetics.com]

  • Paraplegia

    • Atrophic weakness with fasciculations • Hypotonia Features: • Sluggish reflexes • Infantile SMA – Wernig Hoffman • Juvenile SMA – Krugelberg Welander Causes: 45 46.[slideshare.net] Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] retardation with or without seizures AR 13 13 HSPD1 * Spastic paraplegia, Leukodystrophy, hypomyelinating AD/AR 5 5 IBA57 Multiple mitochondrial dysfunctions syndrome 3,[blueprintgenetics.com]

  • Congenital Merosin-Positive Muscular Dystrophy

    Respiratory insufficiency and orthopedic complications may become severe, with diffuse joint contractures and spinal rigidity.[ncbi.nlm.nih.gov] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] , microcephaly, delayed psychomotor development, generalized muscular wasting and weakness with mild facial involvement, calf pseudohypertrophy, joint contractures and areflexia[discovery.ucl.ac.uk]

  • Muscular Dystrophy-Dystroglycanopathy Type B6

    Respiratory insufficiency and orthopedic complications may become severe, with diffuse joint contractures and spinal rigidity.[ncbi.nlm.nih.gov] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] retardation-progressive brain atrophy-basal ganglia disease syndrome Intermediate maple syrup urine disease Intermediate severe Salla disease Intermittent maple syrup urine[se-atlas.de]

  • Autosomal Dominant Myoglobinuria

    The infantile form presents in first few weeks to years of life with diffuse hypotonia and weakness of the muscles.[annalsofneurosciences.org] A late-onset myotubular myopathy has been also reported, which presents with milder symptoms during childhood that worsen after the first or second decade of life and that[intechopen.com] Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes.[selfdecode.com]

  • Myoglobinuria

    Merosin-positive congenital muscular dystrophy present with diffuse hypotonia, weakness, facial weakness, and contractures at birth.[sites.google.com] Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes.[selfdecode.com] Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[sites.google.com]

  • Autosomal Dominant Mental Retardation Type 5

    Neurological examination showed mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis.[kundoc.com] Signs and Symptoms Individuals with KSS present initially in a similar way to those with typical CPEO. Onset is in the first and second decades of life.[findzebra.com] A condition (OMIM:614562) characterised by severe mental and psychomotor retardation, muscle hypotonia and poor expressive speech.[medical-dictionary.thefreedictionary.com]

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