We describe a dominant disease affecting 18 members in three generations. Most patients were classified either as Charcot-Marie-Tooth or Strumpell-Lorraine diseases. The index patient was a 47 years old female who presented pes cavus, bilateral cramps at lower limbs, distal muscle atrophy and rapid progression. An EMG showed signs of neurogenic atrophy but deep tendon reflexes were increased. At 60 years, the patient had painful cramps and a muscle biopsy showed neurogenic denervation. SPECT showed hyporeaction in rolandic area. One sister, at 50 years had both distal atrophy, pes cavus and spastic paraparesis. EMG showed normal conduction velocities. All known linkage for Charcot-Marie-Tooth type la, Ib, Ic, and CMTX were negative. Also the disease did not map with CMT Ha, üb, nor with CMT FVa, FVb. Therefore this is a rare family whose gene location is still unknown.
Hereditary motor-sensory neuropathy (HMSN) type v of late onset
Angelini C.
Membro del Collaboration Group
;
1997
Abstract
We describe a dominant disease affecting 18 members in three generations. Most patients were classified either as Charcot-Marie-Tooth or Strumpell-Lorraine diseases. The index patient was a 47 years old female who presented pes cavus, bilateral cramps at lower limbs, distal muscle atrophy and rapid progression. An EMG showed signs of neurogenic atrophy but deep tendon reflexes were increased. At 60 years, the patient had painful cramps and a muscle biopsy showed neurogenic denervation. SPECT showed hyporeaction in rolandic area. One sister, at 50 years had both distal atrophy, pes cavus and spastic paraparesis. EMG showed normal conduction velocities. All known linkage for Charcot-Marie-Tooth type la, Ib, Ic, and CMTX were negative. Also the disease did not map with CMT Ha, üb, nor with CMT FVa, FVb. Therefore this is a rare family whose gene location is still unknown.Pubblicazioni consigliate
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