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35 Possible Causes for Peripheral Neuropathy, Variable Expressivity of Each Feature

  • Neuropathy

    […] management of generic peripheral neuropathy.[doi.org] Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[ncbi.nlm.nih.gov] Nerve damage caused by injury can also be classified as peripheral neuropathy.[neuravite.com]

  • Autonomic Neuropathy

    A basic understanding of the nervous system and peripheral neuropathies, chart findings to support a neuropathy, and ICD-9-CM and ICD-10-CM categorization of peripheral neuropathies[aapc.com] Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[ojrd.biomedcentral.com] Peripheral Neuropathy Definition The term peripheral neuropathy encompasses a wide range of disorders in which the nerves outside of the brain and spinal cord—peripheral nerves—have[medical-dictionary.thefreedictionary.com]

  • Hereditary Sensory Neuropathy

    Types of Peripheral Neuropathy There are several different kinds of peripheral neuropathies that stem from a variety of causes.[webmd.com] Each HSAN disorder is likely caused by genetic errors that affect specific aspects of small fiber neurodevelopment, which result in variable phenotypic expression. [3] HSAN[ijpd.in] Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[doi.org]

  • Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy

    Features of Textbook of Peripheral Neuropathy Include : ̈ Practical yet comprehensiveóan accessible ìgo-toî reference for clinicians ̈ Covers all clinically relevant peripheral[books.google.com] Each HSAN disorder is likely caused by genetic errors that affect specific aspects of small fiber neurodevelopment, which result in variable phenotypic expression. [3] HSAN[ijpd.in] Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[ojrd.biomedcentral.com]

  • Channelopathy-Associated Congenital Insensitivity to Pain

    Congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to[ghr.nlm.nih.gov] Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[ojrd.biomedcentral.com] neuropathy-type IV: case series and review of literature D.[indianjpain.org]

  • Autosomal Dominant Optic Atrophy

    neuropathy, chronic progressive external ophthalmoplegia (ADOA plus; see this term).[orpha.net] When a person with ADOA plus has children, each child has a: 50% chance to have ADOA plus 50% chance not to have ADOA plus ADOA plus shows features called variable expressivity[rarediseases.info.nih.gov] About 20% of people with DOA have non-ocular features, such as sensorineural hearing loss ; myopathy ; peripheral neuropathy ; multiple sclerosis-like illness; and spastic[rarediseases.info.nih.gov]

  • Familial Dysautonomia

    Familial dysautomonia (FD, or Riley-Day syndrome) is a rare but fatal autosomal recessive peripheral neuropathy caused by a point mutation in I-κ-B kinase complex associated[ncbi.nlm.nih.gov] Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[doi.org] Familial dysautonomia (FD) is a rare but fatal peripheral neuropathy, caused by a point mutation in the IKBKAP gene involved in transcriptional elongation.[ncbi.nlm.nih.gov]

  • Xeroderma Pigmentosum-Cockayne Syndrome Complex

    He had the characteristic CS facies, cachexia, failure of somatic and brain growth, spasticity, ataxia, pigmentary retinopathy, hearing loss, mixed peripheral neuropathy,[ncbi.nlm.nih.gov] Different mutations in one gene can give rise to more than one clinical entity (variable expression) and conversely, each clinical entity can arise from mutations in more[plasticsurgerykey.com] neuropathy Many dental cavities Low birthweight Hand tremors People with XP-CS also tend to have a similar facial appearance.[forgottendiseases.org]

  • Hereditary Sensory Radicular Neuropathy

    Features of Textbook of Peripheral Neuropathy Include : ̈ Practical yet comprehensiveóan accessible ìgo-toî reference for clinicians ̈ Covers all clinically relevant peripheral[books.google.com] Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[ojrd.biomedcentral.com] Types of Peripheral Neuropathy There are several different kinds of peripheral neuropathies that stem from a variety of causes.[webmd.com]

  • Marfan Syndrome

    Lupski and Tamar Harel, 22q11.2q13 duplication including SOX10 causes sex‐reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg[doi.org] Marfan syndrome can affect many parts of the body, and each person is affected differently. This is called variable expression .[marfan.org] The prevalence is 1/20,000 and the disorder is inherited with variable expression.[encyclopedia.com]

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