Autosomal dominant spastic paraplegia type 38
ORPHA:171617DiseaseAutosomal dominantChildhood
Ассоциированные гены1
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SPG38 | spastic paraplegia 38 (autosomal dominant, Silver syndrome) | Disease-causing germline mutation(s) in | Disorder-associated locus | — |
Фенотипы (HPO)25
Очень частый (80–99%)8
HP:0001347Hyperreflexia
HP:0001761Pes cavus
HP:0002061Lower limb spasticity
HP:0002064Spastic gait
HP:0002314Degeneration of the lateral corticospinal tracts
HP:0003393Thenar muscle atrophy
HP:0003487Babinski sign
HP:0007020Progressive spastic paraplegia
Частый (30–79%)7
HP:0003426First dorsal interossei muscle atrophy
HP:0003427Thenar muscle weakness
HP:0003457EMG abnormality
HP:0009031Amyotrophy of ankle musculature
HP:0009053Distal lower limb muscle weakness
HP:0100561Spinal cord lesion
HP:0003392First dorsal interossei muscle weakness
Периодический (5–29%)4
HP:0002166Impaired vibration sensation in the lower limbs
HP:0006892Frontotemporal cerebral atrophy
HP:0009027Foot dorsiflexor weakness
HP:0100543Cognitive impairment
Исключён (0%)6
HP:0000020Urinary incontinence
HP:0000726Dementia
HP:0001250Seizure
HP:0002921Abnormality of the cerebrospinal fluid
HP:0009049Peroneal muscle atrophy
HP:0012898Abnormal lower-limb motor evoked potentials
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1 | Worldwide | Family(ies) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)