Respiratory onset can present with: Dyspnoea and orthopnoea. [patient.info]

Some people present with generalized weakness in infancy while others present with adult-onset weakness that may include proximal muscles and sensory loss. Many people’s first symptom is cramping in the legs. [cmtausa.org]

Power, bulk, gait, and coordination were intact, but distal hyporeflexia was present. Tinel signs were present at the wrists and elbows. No nerves could be palpated. Hammertoes and high arches were present. [emedicine.medscape.com]

Case Presentation A 20-year-old male with diabetes mellitus type 1 and a known personal history of CMTX1 presented to our emergency department with acute-onset dysarthria, tongue deviation, left facial weakness, and left hand numbness developing over [karger.com]

Chromosomal linkage is present for many others ( Table 88-5 ). [clinicalgate.com]

• Hypersomnia

  Headache Migraine Familial hemiplegic Cluster Tension Cerebrovascular TIA Amaurosis fugax Transient global amnesia Acute aphasia Stroke MCA ACA PCA Foville's Millard–Gubler Lateral medullary Medial medullary Weber's Lacunar stroke Sleep disorders Insomnia Hypersomnia [en.wikipedia.org]

  Mild hypersomnia with prolonged sleep time (704 min) and ultradian sleep–wake rhythm with sleep occurrence every 11.8 ± 5.3 h were documented. [frontiersin.org]

• Excessive Daytime Sleepiness

  Forty-one (80%) of the patients reported daytime tiredness, excessive daytime sleepiness, cataplexy-like episodes, and poor nocturnal sleep. [frontiersin.org]

• Fasciculation of the Tongue

  Bulbar onset: The first sign is usually slurring of the speech (impaired tongue movement). Wasting and fasciculation of the tongue. Dysphagia (usually a late feature with significant speech difficulties). [patient.info]

• Torticollis

  Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis [en.wikipedia.org]

  Limb-girdle muscular dystrophy, type 2B Seaver Cassidy syndrome Naegeli syndrome Temtamy syndrome Battaglia-Neri syndrome Accessory deep peroneal nerve Glutamine deficiency, congenital Renier Gabreels Jasper syndrome Malignant hyperthermia arthrogryposis torticollis [checkrare.com]

• Encephalopathy

  […] epileptic encephalopathy type 21 NECAP1 Early infantile epileptic encephalopathy type 23 DOCK7 Early infantile epileptic encephalopathy type 24 HCN1 Early infantile epileptic encephalopathy type 25 SLC13A5 Early infantile epileptic encephalopathy type [centogene.com]

  Toxic encephalopathy Hashimoto's encephalopathy Spinal cord / myelopathy Syringomyelia Syringobulbia Morvan's syndrome Vascular myelopathy Foix–Alajouanine syndrome Spinal cord compression Both/either Degenerative SA Friedreich's ataxia Ataxia-telangiectasia [en.wikipedia.org]

  […] of childhood Distal 22q11.2 microdeletion syndrome Familial acute necrotizing encephalopathy Autosomal dominant progressive external ophthalmoplegia Severe combined immunodeficiency due to DNA-PKcs deficiency Bannayan-Riley-Ruvalcaba syndrome Juvenile [csbg.cnb.csic.es]

  […] disease Pentalogy of Cantrell Camptomelic syndrome long limb type 48,XXXY syndrome Fetal hydantoin syndrome Epidermolysis bullosa, lethal acantholytic X-linked lymphoproliferative syndrome Bilateral generalized polymicrogyria Early infantile epileptic encephalopathy [checkrare.com]

  MFS : Brainstem ischemia, Wernicke’s encephalopathy. Chronic form s – CIDP : Polyneuropathies of different cause; Myopathies. MMN : Motor neuron disorders. CIDP. Myopathies. [neupsykey.com]

• Aphasia

  […] dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia [en.wikipedia.org]

  […] type 2 Gaucher disease type 3 Early-onset progressive neurodegeneration - blindness - ataxia - spasticity Amyotrophic lateral sclerosis Precursor B-cell acute lymphoblastic leukemia Behavioral variant of frontotemporal dementia Progressive non-fluent aphasia [csbg.cnb.csic.es]

  […] treatment lead to significant restoration of neurological function but cranial nerve dysfunction does not regress MLD (AR) 1st decade Motor-sensory polyneuropathy Demyelinating, metachromatic inclusions Progressive psychomotor regression, dysarthria, aphasia [neupsykey.com]

  […] syndrome Pulmonary vein stenosis Alkaptonuria Spondylocostal dysostosis VLCAD deficiency Spastic paraplegia 13 Beckwith-Wiedemann syndrome Femur bifid with monodactylous ectrodactyly Leukonychia totalis Charcot-Marie-Tooth disease Progressive non-fluent aphasia [checkrare.com]

• Myelopathy

  Syringomyelia Syringobulbia Morvan's syndrome Vascular myelopathy Foix–Alajouanine syndrome Spinal cord compression Both/either Degenerative SA Friedreich's ataxia Ataxia-telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary [en.wikipedia.org]

  Dual pathologies: A cervical myelopathy and a co-existent peripheral neuropathy can present as a mixed upper-lower motor neurone picture. Sensory signs and symptoms and absence of bulbar symptoms help to diagnose this. [patient.info]

• Abnormal Gait

  Early Onset: Severe forms may have infant hypotonia with delayed motor milestones, toe walking and even arthrogryposis; most present before age 20, with clumsiness and abnormal gait. [now.aapmr.org]

• Akathisia

  […] disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia [en.wikipedia.org]

Evaluation and treatment of suspected radiculopathy. Figure 3. Evaluation and treatment of suspected radiculopathy. Figure 4. Evaluation and treatment of suspected polyneuropathy (eg, multifocal mononeuropathy). Figure 4. [jaoa.org]

Medical treatment entails use of prokinetic and antiemetic therapies. [gi.org]

SURGICAL TREATMENT Surgical treatment of Charcot arthropathy of the foot and ankle is based primarily on expert opinion. [care.diabetesjournals.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Immune-mediated neuropathies (multifocal motor neuropathy, motor-predominant chronic inflammatory demyelinating polyneuropathy) are important to identify, as effective treatments are available. [em-consulte.com]

Since cumulative fixed deficits may ensue after repeated attacks, the long-term prognosis depends on successful prevention of attacks. The prognosis of AIP is good even in severe, acute attacks. [neupsykey.com]

This cautious approach is understandable, given the prognosis of the illness and the devastation that being given the diagnosis may cause to a person's life. [patient.info]

Prognosis If patients with HSN I receive appropriate counselling and treatment, the prognosis is good. Early treatment of foot infections may avoid serious complications. Also the complications are manageable, allowing an acceptable quality of life. [ojrd.biomedcentral.com]

The prognosis of the CNS phenotype of CMTX1 is usually spontaneous resolution without permanent deficit; therefore, promptly identifying the disease is vital to avoid unnecessary investigation and potentially harmful therapeutic intervention. [karger.com]

These patients with autonomic dysfunction may have slower resolution of their symptoms that may take several years and the prognosis is worse than in postviral gastroparesis without autonomic disorders ( 20, 21 ). [gi.org]

The Charcot foot has been documented to occur as a consequence of various peripheral neuropathies; however, diabetic neuropathy has become the most common etiology. [care.diabetesjournals.org]

Postsurgical gastroparesis (PSG), often with vagotomy or vagus nerve injury, represents the third most common etiology of gastroparesis. [gi.org]

Several demyelinating etiologies can produce a “Dejerine-Sottas” phenotype with early onset, palpable nerves, and marked onion-bulb formation. [now.aapmr.org]

However, most of these conditions present in a rather stereotyped manner, and clarification of the precise etiology may require very elaborate procedures. [dartmouth.edu]

Although dHMN shows similar involvement of posterior compartment muscles, it also severely affects anterior compartment muscles, especially the vastus muscle group, which suggests that the etiologies and pathophysiologies of CMT1A and dHMN differ. [nature.com]

Relevant External Links for DNAJB2 Genetic Association Database (GAD) DNAJB2 Human Genome Epidemiology (HuGE) Navigator DNAJB2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: DNAJB2 No data available for Genatlas for DNAJB2 Gene The chaperone [genecards.org]

Epidemiology Hereditary sensory neuropathy type I (HSN I) constitutes a clinically and genetically heterogenous group of disorders of low prevalence. No detailed epidemiological data are currently available. [ojrd.biomedcentral.com]

There may be several causes for such oxidative damage to motor neurons and the disease may just represent an end-stage phenotypic expression of these abnormalities. [ 4 ] Epidemiology MND is relatively uncommon with an annual incidence of about 2 cases [patient.info]

Epidemiology including risk factors and primary prevention HMSN is the most common inherited neuromuscular disease with overall prevalence of approximately 1/2500 and incidence 15/100,000 in the general population. [now.aapmr.org]

The epidemiology and impact of gastroparesis are reviewed elsewhere ( 2 ). [gi.org]

Inflammation plays a key role in the pathophysiology of the Charcot foot and is the earliest clinical finding. [care.diabetesjournals.org]

Attacks are five times more frequent in women and manifest usually in the third and fourth decades. 35.1.4.3 Pathophysiology Predominantly proximal motor axonal damage with Wallerian degeneration and secondary demyelination. [neupsykey.com]

Pathophysiology This is a degenerative condition that affects motor neurons, namely the anterior horn cells of the spinal cord and the motor cranial nuclei. [patient.info]

Importantly, CMT1A has one of the highest de novo mutation rates, similar to neurofibromatosis type 1, as discussed in Pathophysiology. Consequently, cases occur in which a family history is truly absent. [emedicine.medscape.com]

Although dHMN shows similar involvement of posterior compartment muscles, it also severely affects anterior compartment muscles, especially the vastus muscle group, which suggests that the etiologies and pathophysiologies of CMT1A and dHMN differ. [nature.com]

Prevention is based by awareness and avoidance of precipitating drugs and situations. [neupsykey.com]

MEDICAL TREATMENT The medical treatment of CN is aimed at offloading the foot, treating bone disease, and preventing further foot fractures ( 34 ). [care.diabetesjournals.org]

Primary prevention is genetic counseling. [now.aapmr.org]

This aims to prevent infection and further damage to the exposed spinal cord and spinal nerves. [physio-pedia.com]

Genetic counselling is an important tool for preventing new cases if this is wished by at-risk family members. [ojrd.biomedcentral.com]