Hereditary motor and sensory neuropathy type I and motor neuron disease. An unusual association.
A 34-year-old man experienced progressive muscle weakness and wasting in the shoulder girdle later spreading distally to the upper limbs. Neurological examination revealed signs of pyramidal and bulbar involvement as well as widespread fasciculations. Pes cavus and distal hypoesthesia were also observed. MCV and nerve biopsy findings were consistent with HMSN-I, while EMG pattern suggested a MND. The association of HMSN-I with MND has not been previously described in literature.
La Pia
S
S
Valiani
R
R
Vitolo
S
S
Galdiero
S
S
Rossi
V
V
Santangelo
R
R
Barbieri
F
F
D000328:Adult; D001706:Biopsy; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D009431:Neural Conduction; D009468:Neuromuscular Diseases / Q000150:complications* / Q000473:pathology / Q000503:physiopathology