Article

Differential diagnosis of progressive, symmetric proximal limb weakness with fasciculations and muscle wasting

2026-08-31

Abstract excerpt

<title>Abstract</title> <p>Hereditary motor and sensory neuropathy with proximal involvement (HMSN-P) caused by TFG mutation is easily misdiagnosed as ALS. This case reports a 40-year-old male with 4 years progressive symmetric proximal weakness, fasciculations, hand atrophy, elevated CK and autosomal dominant family history. Electrophysiology detected non-length-dependent polyneuropathy plus atypical proximal my...

Identifiers and source

Literature Corpus work: 2fe80522-a537-57f5-9819-38f206135e9f
DOI: 10.21203/rs.3.rs-10657850/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Click a neighbor to travelStep 1 · 12 closest

Differential diagnosis of progressive, symmetric proximal limb weakness with fasciculations and muscle wastingDOI 10.21203/rs.3.rs-10657850/v1Read

A Case Report and Literature Review of Hereditary Myopathy with Early Respiratory FailureSemantic proximity Read

Proximal myopathy: diagnostic approach and initial management.Semantic proximity Read

Muscle channelopathies: A reviewSemantic proximity Read

Other Myopathies.Semantic proximity Read

Clinical phenotype of familial amyotrophic lateral sclerosis with SOD1 gene mutation mimicking proximal myopathy: A case report and literature review.Semantic proximity Read

Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies.Semantic proximity Read

Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations.Semantic proximity Read

Differential Diagnostic Decision-Making Scheme for Limb Weakness and Bilateral Temporal Pole Abnormal SignalsSemantic proximity Read

Charcot-Marie-Toothe Disease presenting with tremor; a rare presentation of hereditary polyneuropathySemantic proximity Read

Diagnostics in skeletal muscle channelopathies.Semantic proximity Read

Proximal Dominant Hereditary Motor and Sensory Neuropathy with TFG Mutation: First Case Report from India.Semantic proximity Read

Clinical characterization of the proximal lower-limb ALS phenotype: a retrospective cohort study.Semantic proximity Read