| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A complex hereditary spastic paraplegia with characteristics of progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. |
Is a |
True |
Autosomal dominant distal hereditary motor neuropathy (disorder) |
Inferred relationship |
Some |
|
| Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone. |
Is a |
True |
Autosomal dominant distal hereditary motor neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare slowly progressive genetic peripheral neuropathy with characteristics of distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with unilateral or bilateral vocal cord paresis leading to hoarse voice, breathing difficulties and facial weakness. |
Is a |
True |
Autosomal dominant distal hereditary motor neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated. |
Is a |
True |
Autosomal dominant distal hereditary motor neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13. |
Is a |
True |
Autosomal dominant distal hereditary motor neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles. |
Is a |
True |
Autosomal dominant distal hereditary motor neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life. |
Is a |
True |
Autosomal dominant distal hereditary motor neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved. |
Is a |
True |
Autosomal dominant distal hereditary motor neuropathy (disorder) |
Inferred relationship |
Some |
|
FHIR