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9 Possible Causes for Distal Limb Muscle Atrophy due to Peripheral Neuropathy

  • Hereditary Areflexic Dystasia

    LETTER TO THE EDITORS First Online: 07 July 2008 Keywords Nerve Conduction Study Prodan Demyelinating Polyneuropathy Motor Nerve Conduction Velocity Postural Tremor These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning[…][doi.org]

  • Dejerine-Sottas Disease

    Abstract We have investigated the myelin P0 gene on chromosome 1 as a candidate gene in two sporadic cases with Dejerine-Sottas disease or hereditary motor and sensory neuropathy (HMSN) type III. We found different mutations, a cysteine substitution for serine 63 in the extracellular domain and an arginine[…][ncbi.nlm.nih.gov]

  • Hereditary Spastic Paraplegia

    Glucose transporter 1 (GLUT1) deficiency syndrome (GLUT1DS) was initially described in the early 90s as a sporadic clinical condition, characterized by seizures, motor and intellectual impairment with variable clinical presentation, and without a known genetic cause. Although causative mutations in SLC2A1 were later[…][ncbi.nlm.nih.gov]

  • Distal Hereditary Motor Neuropathy Type 5

    Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet. Symptoms of distal hereditary motor neuropathy, type V usually begin during adolescence, but onset varies from infancy to the[…][ghr.nlm.nih.gov]

  • Distal Hereditary Motor Neuropathy Type 7A

    Summary Epidemiology The actual prevalence is unknown due to under-diagnosis but estimates range between 1/50,000-1/20,000. In Finland, the prevalence is reported to be 1/6250. The disease affects males and females equally. Clinical description Disease onset usually occurs in the 2nd to 3rd decade of life, but rarely[…][orpha.net]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1H

    […] by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy.[mendelian.co] Learn more Other less relevant matches: Low match CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C; CMTRIC CMTRIC is an autosomal recessive peripheral neuropathy characterized[mendelian.co]

  • Autosomal Dominant Centronuclear Myopathy

    neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy.[mendelian.co] Top matches: Low match CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA Autosomal recessive intermediate Charcot-Marie-Tooth disease A (CMTRIA) is a peripheral[mendelian.co]

  • X-Linked Intellectual Disability Type Miles-Carpenter

    muscle weakness Distal sensory impairment Respiratory insufficiency due to muscle weakness Peripheral axonal neuropathy Respiratory insufficiency Sensory impairment Narrow[mendelian.co] […] chest Progressive Muscular dystrophy Limb muscle weakness Decreased fetal movement Long nose Nocturnal hypoventilation Atrophy/Degeneration affecting the brainstem Bowel[mendelian.co] […] muscle weakness Type 1 muscle fiber predominance Delayed gross motor development Generalized muscle weakness Neonatal hypotonia Arrhythmia Fatigue High palate Areflexia Distal[mendelian.co]

  • Distal Sensory Loss (all Modalities)

    […] characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy.[ncbi.nlm.nih.gov] Patients have difficulty walking due to distal muscle weakness; upper limbs may also be affected. Sensory impairment is more variable.[ncbi.nlm.nih.gov] Charcot-Marie-Tooth disease, recessive intermediate c MedGen UID: 815639 • Concept ID: C3809309 • Disease or Syndrome CMTRIC is an autosomal recessive peripheral neuropathy[ncbi.nlm.nih.gov]

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