Diagnosis of hereditary neuropathies in adult patients

Pareyson, Davide

doi:10.1007/s00415-003-1030-3

Cited by 40 publications

(37 citation statements)

References 121 publications

(174 reference statements)

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“…In most of the cases, they evolve slowly over many years, with a severity ranging from mildly disturbing to invalidating. As a group, hereditary neuropathies are common disorders, and likely many patients affected by mild forms remain undiagnosed [46]. Hereditary neuropathies may affect predominantly motor fibres, or sensory and motor fibres or sensory and autonomic fibres.…”

Section: Heredithary Neuropathiesmentioning

confidence: 99%

Painful Peripheral Neuropathies

Marchettini¹,

Lacerenza²,

Mauri³

et al. 2006

133

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Peripheral neuropathies are a heterogeneous group of diseases affecting peripheral nerves. The causes are multiple: hereditary, metabolic, infectious, inflammatory, toxic, traumatic. The temporal profile includes acute, subacute and chronic conditions. The majority of peripheral neuropathies cause mainly muscle weakness and sensory loss, positive sensory symptoms and sometimes pain. When pain is present, however, it is usually extremely intense and among the most disabling symptoms for the patients. In addition, the neurological origin of the pain is often missed and patients receive inadequate or delayed specific treatment. Independently of the disease causing the peripheral nerve injury, pain originating from axonal pathology or ganglionopathy privileges neuropathies affecting smaller fibres, a clinical observation that points towards abnormal activity within nociceptive afferents as a main generator of pain. Natural activation of blood vessels or perineurial nociceptive network by pathology also causes intense pain. Pain of this kind, i.e. nerve trunk pain, is among the heralding symptoms of inflammatory or ischemic mononeuropathy and for its intensity represents itself a medical emergency. Neuropathic pain quality rekindles the psychophysical experience of peripheral nerves intraneural microstimulation i.e. a combination of large and small fibres sensation temporally distorted compared to physiological perception evoked by natural stimuli. Pins and needles, burning, cramping mixed with numbness, and tingling are the wording most used by patients. Nociceptive pain instead is most often described as aching, deep and dull. Good command of peripheral nerve anatomy and pathophysiology allows timely recognition of the different pain components and targeted treatment, selected according to intensity, type and temporal profile of the pain.

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Section: Heredithary Neuropathiesmentioning

confidence: 99%

Painful Peripheral Neuropathies

Marchettini¹,

Lacerenza²,

Mauri³

et al. 2006

133

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“…Fabry disease pain has been reported as early as three years of age in males, and in females, as young as six years (16). In addition, significant visceral (ie, abdominal and gastrointestinal) and/or joint pain may also be experienced (11,21,22).…”

Section: Neuropathic Pain and Fabry Diseasementioning

confidence: 99%

A Survey of the Pain Experienced by Males and Females with Fabry Disease

Gibas

Klatt

Johnson

et al. 2006

Pain Research and Management

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BACKGROUND: The clinical onset of Fabry disease, a rare, X-linked, multisystemic disorder, is marked by neuropathic pain. Males suffer extensively from this disease. Females, as genetic ‘carriers’, have traditionally been viewed as either asymptomatic or mildly afflicted with this disease.OBJECTIVES: To describe Fabry-related pain and compare experiences between the sexes. Patients’ perceptions of physician pain assessments were also examined.METHODS: A disease-specific questionnaire was accessible on-line (www.fabry.org) and mailed to 552 members of a Fabry disease support group.RESULTS: The response rate was 14.3% for the support group-based mail questionnaire. Females (58.0%) were significantly older (mean ± SD 45.9±13.5 years) than males (mean ± SD 40.0±12.1;t[86]=−2.11, P<0.05). Females were diagnosed with Fabry disease later (31.1±14.0 years) than males (24.2±11.9 years;t[86]=−2.43, P<0.05). Females (mean score for pain disability rating 3.0±1.4) suffered more extensive disability from migraine pain (mean score 2.2±1.3; F [1, 74]=45.0, P<0.005), and, unlike males, did not exhibit a decline in pain intensity with disease duration. Satisfaction with physician pain assessments was moderate.CONCLUSIONS: Contrary to the traditional view of females as carriers, females with Fabry disease experienced intense disease-related pain; pain produced comparable distress and impairment in both sexes. The diagnostic delay and absence of a decline in pain symptoms over time in females suggest additional disease burden. Females may be triply disadvantaged in the health care system due to disease rarity, devalued carrier status and sex.

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“…It is a demyelinating neuropathy with nerve conduction velocity (NCV) diffusely and homogenously slowed below 38 m/s. 19 Sixty to ninety percent of cases carry a duplication on chromosome 17p11.2, encompassing the peripheral myelin protein 22 (PMP22), 19 and these case are designated as HMSN IA. In other HMSN I patients, micromutations involving the PMP 22 gene or the myelin protein zero (PO) gene (HMSN IIB) are occasionally seen.…”

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confidence: 99%

Foot Deformities in Children With Hereditary Motor and Sensory Neuropathy

Wines¹,

Chen²,

Lynch³

et al. 2005

Journal of Pediatric Orthopaedics

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The authors reviewed 104 feet from 52 consecutive children with hereditary motor and sensory neuropathy (HMSN) seen for the first time in clinics in two pediatric institutions between 1996 and 2003. Sixty-nine feet had a cavovarus deformity, 23 feet had a planovalgus deformity, and 12 feet had no significant deformity. All cases with deformity had bilateral involvement, and of those with deformity, only 45% had symmetric involvement. In HMSN I, III, IV, V, and X-linked HMSN, cavovarus was the most common deformity. However, in HMSN II, 55% of feet had a planovalgus deformity, 36% had a cavovarus deformity, and 9% had no deformity. In all, 43 feet underwent surgery of some type. Surgery, and in particularly combined bony and soft tissue procedures, was performed much more frequently on feet with cavovarus than planovalgus deformities. Soft tissue surgery alone was performed at an earlier age than combined bony and soft tissue surgery.

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Diagnosis of hereditary neuropathies in adult patients

Cited by 40 publications

References 121 publications

Painful Peripheral Neuropathies

Painful Peripheral Neuropathies

A Survey of the Pain Experienced by Males and Females with Fabry Disease

Foot Deformities in Children With Hereditary Motor and Sensory Neuropathy

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