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Distal Hereditary Motor Neuropathy Type 2A

Distal Spinal Muscular Atrophy Type 2


Presentation

  • Methods: The clinical presentations, electrophysiology and genetics of two patients with the dHMN I phenotype are described.[cambridge.org]
  • He has presented more than 450 papers and posters in National and International Congress (RSNA, ESGAR, ECR, ISR, AOCR, AINR, JRS, SIRM, AINR).[books.google.de]
  • She was operated on at that time, but she is presently blind due to bilateral leucocoria. Bilateral buphthalmos was present. Her mental status is normal. A distal upper and lower limb muscle atrophy and weakness and marked pes cavus were present.[scielo.br]
  • Creatine kinase will be elevated. [2] Congenital Myopathies They may present at birth with marked weakness, hypotonia, external ophthalmoplegia and respiratory failure.[explainmedicine.com]
  • The most common presenting symptom is the sudden onset of painless focal sensory loss and muscle weakness in the distribution of a single nerve.[orpha.net]
Italian
  • He is member of the Italian Society of Radiology (SIRM), European Society of Radiology (ESR), Radiological Society of North America (RSNA), American Roentgen Ray Society (ARRS) and European Society of Neuroradiology (ESNR) and serves as Reviewer of more[books.google.de]
Petechiae
  • Hereditary Neuropathies associated with skin manifestations  Amyloidosis :Petechiae or purpura  Refsum: Ichthyosis  Sensory neuronopathies: Ulcers  Coproporphyria: Skin photosensitivity,  Fabry: Angiokeratoma 54.[slideshare.net]
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]

Workup

  • Clinical Testing and Workup Nerve conduction studies (NCS) and electromyography (EMG) are very useful.[rarediseases.org]

Treatment

  • Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders.[books.google.de]
  • An appreciation of the genetic underpinnings may lead to treatment options in the future. Hence reports, like this one, which add to this understanding, remain extremely important.[cambridge.org]
  • The supportive treatment is generally provided by a multidisciplinary team including neurologists, orthopedic surgeons, physical and occupational therapists; with treatment choices limited to physical therapy, the use of orthotics, surgical treatment[bcbst.com]
  • Management and treatment In some, treatment is unnecessary as recovery can be spontaneous. Those with foot drop or wrist drop may benefit from an ankle-foot orthosis or a wrist splint.[orpha.net]
  • Treatment for spinal muscular atrophy Unfortunately, there is currently no specific treatment for SMA.[betterhealth.vic.gov.au]

Prognosis

  • Prognosis HNPP is not life threatening. Prognosis is good as half of patients recover fully after an episode and half with an incomplete recovery. Residual symptoms are usually relatively mild and do not result in severe disability.[orpha.net]
  • Parents should talk to their own or their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
  • CMT in pregnancy increases the risk for complications during delivery and a higher risk of intervention. [ 11 ] Prognosis This is dependent on subtype; clinical impairment and disability correlate with axonal loss: Most patients with CMT1A have normal[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]
  • A specific genetic diagnosis can provide patients and their relatives with information about prognosis and recurrence risk and may be relevant to future gene-specific therapies ( 17, 22 ).[tidsskriftet.no]

Etiology

  • Etiology HNPP is due to a mutation in the PMP22 gene (17p12), encoding the peripheral myelin protein-22 (PMP22) that is predominantly expressed in the compact myelin of the peripheral nervous system.[orpha.net]
  • Several demyelinating etiologies can produce a “Dejerine-Sottas” phenotype with early onset, palpable nerves, and marked onion-bulb formation.[now.aapmr.org]
  • Autosomal recessive inheritance has been confirmed in a significant proportion of cases and the existence of both genetic and etiological heterogeneity of the GLC3 phenotype 8 .[scielo.br]
  • 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]

Epidemiology

  • Thus, epidemiological studies by evaluating the prevalence of different genetic CMT subtypes, associated with clinical and neurophysiological characterization, especially for CMT2 and dHMN patients, can further help the clinicians in choosing proper genetic[deepdyve.com]
  • Relevant External Links for FBXO38 Genetic Association Database (GAD) FBXO38 Human Genome Epidemiology (HuGE) Navigator FBXO38 Atlas of Genetics and Cytogenetics in Oncology and Haematology: FBXO38 No data available for Genatlas for FBXO38 Gene A dominant[genecards.org]
  • 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.[orpha.net]
  • Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology. 2016. 46 (3):157-65. [Medline]. Garcia CA, Malamut RE, England JD, Parry GS, Liu P, Lupski JR.[emedicine.medscape.com]
  • Epidemiology It is the most common inherited neuromuscular disorder affecting 1 in 2,500 people. [ 1 ] It has no predilection for a particular race or sex.[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • See Hereditary Peripheral Neuropathies Testing Algorithm in Special Instructions Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Inherited peripheral neuropathies are a relatively[mayomedicallaboratories.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]
  • Pathophysiology CMT1A The extra PMP22 gene copy within the 1.5 mB duplication on chromosome 17 is believed to cause most cases. [12] PMP22 is a 160 amino acid integral membrane protein that is expressed at high levels in myelinating Schwann cells, localizing[emedicine.medscape.com]

Prevention

  • The prevention of HNPP manifestations can be accomplished by wearing protective padding (e.g., elbow or knee pads) to prevent trauma to nerves during activity.[bcbst.com]
  • The NCARDRS helps scientists look for better ways to prevent and treat CMT. You can opt out of the register at any time. Page last reviewed: 18/02/2019 Next review due: 18/02/2022[nhs.uk]
  • Primary prevention is genetic counseling.[now.aapmr.org]
  • Weakened ankles can be treated with orthotics, but special care (e.g. sleeves, etc.) may be necessary to prevent skin abrasion. Genetic counseling may be of benefit for affected individuals and their families.[rarediseases.org]
  • Daily heel-stretching exercises prevent Achilles tendon shortening. Interventions designed to improve posture and balance may also be helpful.[patient.info]

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