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A 44 year old woman with a positive family history for neuromuscular disease, presents with a slowly progressive peripheral neuropathy, found to be demyelinating on neurophysiology. Genetic testing confirms the diagnosis.

A 69 year old man presents with a history of recurrent episodes of brachial neuritis. The symptoms started at the age of 35 and the episodes were usually preceded by flu-like illnesses or infection. His son had an episode of brachial neuritis at the age of 17. The clinical picture is consistent with hereditary neuralgic amyotrophy (HNA), however genetic testing does not reveal mutations in the Septin 9 (SEPT9) gene. As only ~ half of the HNA families studied had a defect in the SEPT9 gene, mutations in other genes that have not yet been identified may be responsible for HNA.

A 66 year old man presents with a two year history of gradually progressive lower limb weakness. The presentation was preceded by symptoms compatible with bilateral carpal tunnel syndrome. Four years before the development of neurological symptoms he had a permanent pacemaker inserted. Amyloid deposits were detected on sural nerve biopsy. A mutation in the transthyretin gene (Val30Met) confirms the diagnosis of Familial amyloid polyneuropathy.

A 59 year old woman presents with a 3 year history of burning sensations in the hands and feet. There is neither limb weakness nor autonomic symptoms. Nerve conduction studies and thermal thresholds are normal. Her father was reported to have Fabry disease. Genetic testing confirms the presence of a heterozygous mutation in the alpha-galactosidase gene.

A 43 year old man presents with a 20 year history of progressive lower limb weakness. He has no sensory symptoms. There is no family history of neurological disease. Nerve conduction studies reveal normal sensory responses with reduced or absent motor responses in the upper and lower limbs. Genetic testing reveals a heterozygous mutation in the Heat Shock Protein B1 (HSPB1) gene confirming the diagnosis of distal hereditary motor neuropathy.

A 25 year old woman presents with transient tingling in both hands after prolonged writing. She had an episode of left foot drop at the age of 24 without a clear cause. Nerve conduction studies reveal bilateral median and ulnar neuropathy and compression of the left peroneal nerve at the fibular head. Genetic testing reveals chromosome 17 deletion confirming the diagnosis of Hereditary neuropathy with liability to pressure palsy.

A 49 year old man presents with a 20 year history of progressive numbness, shooting pain and weakness affecting the upper and lower limbs. He also has recurrent ulcers. His mother had a painful sensory neuropathy. Nerve conduction studies are compatible with a sensory and motor axonal neuropathy. Genetic testing reveals a mutation in the SPTLC1 gene confirming the diagnosis of Hereditary Sensory and Autonomic Neuropathy (HSAN) type 1A.