title: Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.
abstract: Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by a trinucleotide CAG repeat expansion in the androgen receptor gene; it is clinically characterized by adult-onset, slowly progressive weakness and atrophy mainly affecting proximal limb and bulbar muscles. Charcot-Marie-Tooth disease type 1A is an autosomal dominant polyneuropathy due to peripheral myelin protein 22 gene duplication and characterized by slowly progressive distal limb muscle weakness, atrophy and sensory loss with foot deformities. Here we report the co-occurrence of both neuromuscular genetic diseases in the same male patient. Difficulties in climbing stairs and jaw weakness were presenting symptoms consistent with SBMA. However, predominant distal weakness and bilateral pes cavus were rather suggestive of a hereditary polyneuropathy. The combination of two diseases, even if extremely rare, should be considered in the presence of atypical symptoms; in the case of genetic diseases this event may have important implications on family members' counseling.
authors: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors: Anna
authors: A
authors: Sagnelli
authors: Department of Neurophysiology-Epilepsy Center, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors: Vidmer
authors: V
authors: Scaioli
authors: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors: Giuseppe
authors: G
authors: Piscosquito
authors: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors: Ettore
authors: E
authors: Salsano
authors: Headache and Neuroalgology Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors: Eleonora
authors: E
authors: Dalla Bella
authors: Unit of Genetics of Neurodegenerative and Metabolic Diseases, Department of Diagnostic and Applied Technology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
authors: Cinzia
authors: C
authors: Gellera
authors: Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy. Electronic address: davide.pareyson@istituto-besta.it.
authors: Davide
authors: D
authors: Pareyson
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D015897:Comorbidity; D006801:Humans; D008297:Male; D008875:Middle Aged; D020966:Muscular Disorders, Atrophic / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics
keywords: Androgen receptor; Charcot–Marie–Tooth; Peripheral myelin protein 22; Spinal and bulbar muscular atrophy