Overview of Sensory Radicular Neuropathy Recessive Form
MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy inheriting in an autosomal recessive manner.
The autosomal recessive sensory radicular neuropathy is a rare hereditary disorder characterized by profound sensory loss involving large and small fiber nerves. It is classified as a disorder under the synonym ″Hereditary sensory radicular neuropathy″ (HSAN2) and is known for its distinct genetic abnormalities affecting nerve function.
Characteristics and Symptoms of HSAN Type II
Hereditary sensory and autonomic neuropathy type II presents with progressively reduced sensation to pain, temperature, and touch. Onset can be at birth, affecting lower limbs more severely than upper limbs.
Definition and Classification
The autosomal recessive sensory radicular neuropathy is a rare hereditary disorder classified as Hereditary Sensory Autonomic Neuropathy Type II (HSAN2). It involves profound sensory loss in large and small fiber nerves٫ typically affecting the lower limbs more severely.
Sensory Deficits and Onset
Patients with hereditary sensory and autonomic neuropathy type II (HSAN2) typically experience progressively reduced sensation to pain, temperature, and touch. The onset can occur at birth, with the lower limbs usually being more severely affected than the upper limbs.
Molecular Genetic Testing Approach
When the phenotypic and electrophysiologic findings suggest the diagnosis of HSAN2, the recommended molecular genetic testing approach involves utilizing a multigene panel. This panel typically includes genes associated with hereditary sensory and autonomic neuropathy, helping to identify the genetic cause of the condition.
Clinical Features and Biopsy Findings
Clinical features in cases of the autosomal recessive hereditary sensory neuropathy include typical symptoms of the disease. Biopsy findings show specific nerve abnormalities that confirm the diagnosis.
Description of Recessive Form Cases
Clinical features in cases of the autosomal recessive hereditary sensory neuropathy typically include symptoms specific to this form, such as limited cutaneous sensation in distal areas, and may involve minimal tendon reflex impairment. Sural nerve biopsies from affected individuals show nerve abnormalities confirming the diagnosis.
Treatment and Management of HSAN Type II
Management of hereditary sensory and autonomic neuropathy type II involves symptomatic treatment to address pain and sensory deficits. Physical therapy and orthopedic interventions may help manage complications. Support groups and resources can offer valuable assistance to individuals and families dealing with the condition.
Support Organizations and Resources
Patients and families affected by Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2) can benefit from connecting with support organizations and utilizing financial resources available for managing the condition. These organizations provide valuable assistance and information to help individuals cope with the challenges associated with HSAN2.
Distinction from Other Forms of Sensory Neuropathies
Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch, primarily affecting the lower limbs more severely. This condition presents distinct genetic abnormalities that set it apart from other sensory neuropathies.
Comparison with Differentiated Conditions
Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2) stands out with its distinct genetic inheritance pattern and characteristic symptoms when compared to other forms of sensory neuropathies. While some conditions share similarities٫ HSAN2 is uniquely identified by its autosomal recessive nature and specific manifestation of sensory deficits.