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- W2084186137 abstract "Hereditary distal motor neuropathy (HDMN) is a group of genetically and clinically heterogeneous disorders with an autosomal recessive or dominant mode of inheritance. Clinically is characterized by chronic muscle weakness and wasting of distal limb muscles. To present the clinical and laboratory results of a group of 10 patients with HDMN diagnosed between 2000 and 2005. The clinical files of ten patients diagnosed with HDMN in the last five years were reviewed regarding clinical data and results of laboratory tests. There was equal gender distribution. At the time of diagnosis, the youngest patient was 26 years of age and the eldest 58. The first symptoms began in infancy or adolescence in six patients and in adulthood in the remaining. Nine patients presented muscular weakness and atrophy distally in the lower limbs and in three of these, the upper limbs were involved some later. Only one patient had simultaneous involvement of distal upper and lower limbs muscles. Two patients had pes cavus and another Achilles tendon retraction. No patient lost independent ambulation. Sensory examination was normal. Four patients had a positive family history for the same disease. In the electrodiagnostic studies sensory potentials were preserved and muscle examination with needle electrode showed signs of chronic denervation, most significant in the distal muscles. A muscular biopsy was performed in four patients that demonstrated neurogenic muscular atrophy. All patients went through genetic study but no mutation was found (SNMt and NAIPt genes). The HDMN is a rare disease, clinically and genetically heterogeneous. This group of patients is homogeneous for the clinical presentation, where the muscular weakness and atrophy were always predominant in the distal muscles of the upper and lower limbs. The fact that all genetic studies were negative for mutations in the SNMt and NAIPt genes, clear set apart this group of patients from the classical form of spinal muscular atrophy." @default.
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- W2084186137 date "2006-10-01" @default.
- W2084186137 modified "2023-10-17" @default.
- W2084186137 title "N.P.1 06 Distal hereditary motor neuropathies" @default.
- W2084186137 doi "https://doi.org/10.1016/j.nmd.2006.05.034" @default.
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