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Inflammatory diseases affecting the spinal cord
Published in Milosh Perovitch, Radiological Evaluation of the Spinal Cord, 2019
Progressive hypertrophic polyneuritis is a rare disease, often familial, characterized by considerable enlargement of peripheral nerves and slowly progressive symptoms of polyneuritis. The disease is linked to the names of Dejerine and Sottas (Dejerine-Sottas disease) who gave its first description in 1893.128 The volume of the peripheral nerves can be considerably increased, sometimes in an asymmetric fashion. The cranial nerves may also be involved. This thickening of the nerves is mainly due to the hypertrophy and proliferation of the neurilemma that can form masses or layers resembling an onion around the nerve fibers.77, 126 Myelographic changes produced by the thickened nerves of the cauda equina are usually evident. They can provoke a partial obstruction of the subarachnoid space and give an irregular appearance to the column of the contrast medium. Occasionally, a tumorous thickening around the nerve root may be confused with neurofibroma, especially if the intervertebral foramina are enlarged. The myelographie appearance of progressive hypertrophic polyneuritis is similar to the widening of the nerve roots seen in a herniated disk or redundant nerve roots, in chronic diabetic neuritis, in the recurrent postinfective polyneuropathy, and in Refsum’s syndrome.128
Neurology
Published in Fazal-I-Akbar Danish, Essential Lists of Differential Diagnoses for MRCP with diagnostic hints, 2017
Thickened peripheral nerves:1 HSMN30 type III (also called Dejerine–Sottas’ disease).2 Acromegaly.3 Neurofibromatosis.4 Infection (tuberculoid leprosy; HIV).
Charcot-Marie-Tooth Disease: Disorder or Syndrome?
Published in Leon I. Charash, Robert E. Lovelace, Claire F. Leach, Austin H. Kutscher, Rabbi Jacob Goldberg, David Price Roye, Jill C. Crabtree, Muscular Dystrophy and Other Neuromuscular Diseases: Psychosocial Issues, 2014
The common method is by dominant transmission in which it is only necessary for one parent to carry the defective gene, and in these families several generations are often involved. In dominant disorders it is not possible to accurately predict the degree of involvement of affected relatives, which in their children have a 50% chance of having the abnormal gene. This can express itself as a very minor abnormality, pes cavus or a high arched foot without disability or weakness (called “forme-fruste”) through moderate involvement with weak and atrophic hands and feet to unsteady and impaired ambulation needing aids. The rarer recessive form needs both parents to have the gene, which in this case usually gives no symptoms in the parents, although if they are blood relatives (consanguineous) this combination is clearly more likely to happen. In comparison with the above (so-called autosomal) inheritance, sex-linked inheritance via the female members only (involving the gene on the X or sex chromosome) in both the recessive and dominant modes has been found to be commoner than previously suspected.3 Recessive inheritance involves on the average only 25% of the children who are often similar in their clinical manifestations. Clearly, genetic counselling is of great value in this disease. Type 3 (HMSN 3) or Dejerine Sottas disease is rare and is recessive or sporadic, has early onset with prominent sensory manifestations and, like Type 1, has extremely hypertrophic (often visible) and demyelinated nerves with very slow conduction velocity and a pointed face, like a tapir.’
Characterising gait in paediatric neuromuscular disorders: an observational study of spatio-temporal gait in a clinical cohort
Published in Disability and Rehabilitation, 2022
Rachel A. Kennedy, Katy de Valle, Justine Adams, Monique M. Ryan, Alisha K. Fitzgerald, Kate Carroll
Whilst children were tested in footwear commonly worn in everyday life, testing was conducted in a flat, indoor clinical environment over short distances, which is not reflective of a child’s typical everyday environment. Therefore, the findings of the spatio-temporal gait assessment cannot be generalisable to walking in outdoors, at school and in community settings where surface types, obstacles, changes in terrain and distance requirements differ. However, the inclusion of the participant-reported FMS provides broader insight, characterising and reflecting the effect of disability on “real world” functional mobility. Nearly, 50% of the children with NMD reported limitations in their home environments, 70% in their school environments and 80% reported that they require some form of assistance to access their everyday community environments, with either mobility aids, assistance from another person or environmental modifications such as rails on stairs. Of note, very few children with NMD reported using gait aids such as a walker or crutches to move about their typical environments. Global weakness of not only the legs but also arms and reduced physical endurance likely makes using a gait aid more difficult, with the exception of more severely affected children (e.g., children with Dejerine–Sottas disease). Additionally, children who could not walk independently (without gait aids) over 10 m were excluded from this study and explains the low numbers who reported using a gait aid in this study. The FMS has been used in a number of patient populations including spina bifida/myelomeningocele [27,28] but has only been validated in children with cerebral palsy [19], and requires validation in the NMD population.
The audiologic profile of patients with Charcot-Marie Tooth neuropathy can be characterised by both cochlear and neural deficits
Published in International Journal of Audiology, 2019
Nicholas Giuliani, Lenore Holte, Michael Shy, Tiffany Grider
Charcot-Marie-Tooth (CMT) neuropathy is the most commonly inherited neurodegenerative disorder and affects ∼1:2500 people (NIH 2007). CMT is a heterogeneous condition and is categorised into two major groups: a demyelinating peripheral neuropathy and an axonal peripheral neuropathy. Prior to 1991, clinical differentiation between these classifications was based solely on phenotypic (observable) characteristics but has since expanded to include gene mutations specific to each group (Bird 2016a). Individuals with the demyelinating form of CMT (CMT1) generally exhibit slow nerve conduction velocities (<25 m/s) while individuals with the axonal form of CMT (CMT2) exhibit normal nerve conduction velocities (40–50 m/s). A third form of CMT (CMT-INT) was recently recognised and individuals with this variant exhibit intermediate nerve conduction velocities (25–45 m/s) (Bird 2016a). X-linked CMT (CMT1X) is a common subtype in which females are often mildly affected or asymptomatic while men are typically more severely affected (Bird 2016b). There are also CMT3 and CMT4 classifications, but these conditions are not common (NIH 2007). In fact, CMT3 (now known as Dejerine-Sottas disease) is antiquated nomenclature for severe, early onset types of peripheral neuropathy and is no longer in general usage to classify CMT (Pearce 2006). Through genetic testing, CMT can be further differentiated into subgroups based on the affected gene(s). Mutations in more than 90 genes have been linked to CMT (Timmerman et al. 2014). The genetic determinant of CMT is indicated by a letter following the numerical designation (e.g. CMT1A) (see Fridman et al. 2015 for further information). Generally, CMT onset is insidious and causes progressive degeneration, which in turn leads to motor and sensory impairment (Bähr et al. 1999; Reilly and Shy 2009). Characterising the clinical features of CMT is challenging because there are many genetic causes and each genetic aetiology has the potential for unique features.