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Hereditary neuropathy with liability to pressure palsy (HNPP) is a peripheral neuropathy, a condition that affects the nerves. [4] Pressure on the nerves can cause tingling sensations, numbness, pain, weakness, muscle atrophy and even paralysis of the affected area. In normal individuals, these symptoms disappear quickly, but in sufferers of ...
Patients with hereditary motor and sensory neuropathies are diagnosed through a physical evaluation that looks for muscle atrophy, weakness, and sensory responses. [3] In addition to this, electromyography and motor nerve conduction tests can help clinicians decide what type of motor and sensory neuropathy it is and how severe the disease is.
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present.
Micrograph showing peripheral neuropathy . Polyneuropathy is peripheral neuropathy occurring in the same areas on both sides of the body. Specialty: Neurology Symptoms: Ataxia [1] Causes: Hereditary (Charcot–Marie–Tooth disease), and acquired (alcohol use disorder) [2] Diagnostic method: Nerve conduction study, urinalysis [3] [1] Treatment
Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination . The condition typically manifests in childhood or adolescence, with initial ...
Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay. [1] [2] Although it is an autosomal recessive disorder, heterozygotes may still manifest much attenuated symptoms. [3]
Limb girdle muscular dystrophies (LGMD) as defined by the European Neuromuscular Centre in 2018. [ 1 ] [ 2 ] They are named by the following system: LGMD, recessive or dominant inheritance (R or D), order of discovery (number), affected protein.
Nerve compression syndrome, or compression neuropathy, or nerve entrapment syndrome, is a medical condition caused by chronic, direct pressure on a peripheral nerve. [1] It is known colloquially as a trapped nerve , though this may also refer to nerve root compression (by a herniated disc , for example).