IllnessNeuropathies: HSN - HSAN - SFN; differential diagnosis

NGS +

[Sanger]

Hereditary sensory and autonomic neuropathies (HSAN) occur much less frequently than primary hereditary motor sensory neuropathies. The main characteristic of HSAN is the loss of large myelinated and non-myelinated fibres. HSAN1 is the most common form and is characterised by progressive degeneration of the dorsal root ganglion and motor neurons, leading to distal sensory loss and later to distal muscle atrophy and weakness. HSAN2 is also caused by the loss of pain, temperature, pressure and touch sensations with large and small-fibre sensory involvement. HSAN3 is better known as familial dysautonomy, a progressive sensomotor neuropathy. The sympathetic autonomic dysfunction is responsible for most clinical manifestations. HSAN4 is also known as congenital analgesia with anhidrosis. HSAN5 is characterised by loss of pain and temperature sensation. Other categorised forms are rare, some cases of hereditary sensory neuropathy (HSN) in children are not included in the current classification. In HSAN, diagnostic yields are highly dependent on clinical characterisation. In small-fibre neuropathies (SFN), mutations in genes for voltage-gated sodium channels can be detected in up to 30%. An inconspicuous genetic finding therefore does not mean that the clinical suspected diagnosis can be excluded with certainty.

Reference: https://dgn.org/leitlinien/ll-030-067-diagnostik-bei-polyneuropathien-2019/

• Alias: Hereditary Sensory Neuropathy, HSN [rarely used designation/abbreviation]
• Alias: Hereditary sensible and autonomic neuropathy, HSAN
• Alias: Hereditary sensory + autonomic neuropathy
• Alias: Hereditary sensory neuropathy
• Alias: Hereditäre sensorische + autonome Neuropathie, HSAN
• Alias: Hereditäre sensorische Neuropathie, HSN [weniger gebräuchliche Bezeichnung/Abkürzung]
• Alias: Polyneuropathie
• Alias: Small-Fiber-Neuropathy, SFN
• Alias: Small-fiber Neuropathie, SFN
• Allelic: Dysautonomia, familial (ELP1)
• Allelic: Epidermolysis bullosa simplex, AR 2 (DST)
• Allelic: Episodic pain syndrome, familial, 3 (SCN11A)
• Allelic: NESCAV syndrome (KIF1A)
• Allelic: Optic atrophy 3 with cataract (OPA3)
• Allelic: Pseudohypoaldosteronism, type IIC (WNK1)
• Allelic: Spastic paraplegia 30, AD + AR (KIF1A)
• Allelic: Spastic paraplegia 3A, AD (ATL1)
• 3-methylglutaconic aciduria, type III (OPA3)
• Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
• Charcot-Marie-Tooth disease, type 2B (RAB7A)
• Fabry disease (GLA)
• Fabry disease, cardiac variant (GLA)
• Insensitivity to pain, congenital, with anhidrosis (NTRK1)
• Neuropathy, hereditary sensory + autonomic, type IA (SPTLC1)
• Neuropathy, hereditary sensory + autonomic, type IC (SPTLC2)
• Neuropathy, hereditary sensory + autonomic, type II (WNK1)
• Neuropathy, hereditary sensory + autonomic, type IIB (RETREG1)
• Neuropathy, hereditary sensory + autonomic, type V (NGF)
• Neuropathy, hereditary sensory + autonomic, type VI (DST)
• Neuropathy, hereditary sensory + autonomic, type VII (SCN11A)
• Neuropathy, hereditary sensory + autonomic, type VIII (PRDM12)
• Neuropathy, hereditary sensory, type ID (ATL1)
• Neuropathy, hereditary sensory, type IE (DNMT1)
• Neuropathy, hereditary sensory, type IF (ATL3)
• Neuropathy, hereditary sensory, type IIC (KIF1A)
• Neuropathy, hereditary sensory, with spastic paraplegia (CCT5)