Cardioneuromyopathy with Hyaline Masses and Nemaline Rods
Charcot-Marie-Tooth disease +
Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy
distal hereditary motor neuronopathy type 7 +
essential tremor 2
Fryns Macrocephaly
Giant Axonal Neuropathy +
Hagemoser Weinstein Bresnick Syndrome
Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive
hereditary neuropathy with liability to pressure palsies
Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance
Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive
hereditary spastic paraplegia +
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity
CMT with Pyramidal Features
;
Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant
;
French settlement disease
;
HMSN 5
;
HMSN Type V
;
HMSN V
;
HMSN V (Hereditary Motor and Sensory Neuropathy Type V)
;
Hereditary Motor And Sensory Neuropathy V
;
Hereditary Motor Sensory Neuropathy with Pyramidal Signs
;
Hereditary Motor and Sensory Neuropathy 5
;
Hereditary Spastic Paraplegias
;
Hereditary X Linked Recessive Spastic Paraplegia
;
Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia
;
Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant
;
Strumpell-Lorrain disease
;
familial spastic paraplegia
;
hereditary spastic paraparesis
;
type V hereditary motor and sensory neuropathy