We report a 56-year-old right-handed man, previously healthy, who presented with one year of progressive stiffness and pain of his right leg after walking. His motor and cognitive development were normal. Family history was negative for neuromuscular disorders, but consanguinity was present.

His stature was short, face and chin small, and palate highly arched. He had limited upgaze, bilateral fixed ptosis, saccadic eye pursuit and facial weakness. Muscle tone was increased in legs. There was bilateral mild weakness of hip flexion, hip abduction, knee flexion, ankle dorsiflexion, toe extension and flexion, worse on right. Sensory examination was normal. Jaw jerk was normal. Pectoralis reflex was brisk. Deep tendon reflexes were 2+ in upper extremities and 3+ at patella and ankle bilaterally. Plantar reflexes were downgoing. Gait was wide based, spastic with right leg circumduction.

Metabolic panel, complete blood count, HbA1C, thyroid panel, vitamin B12, folate, and testosterone were normal. Acetylcholine receptor blocking antibodies, MUSK antibodies, antinuclear antibodies, RPR, FTA-Abs were negative.

Brain MRI showed cerebellar atrophy and cervical spine MRI mild disk bulges. NCS/EMG revealed non irritative myopathic changes in facial muscles. Single fiber EMG of right frontalis was abnormal. 

Genetic testing was positive for homozygous pathogenic variant in SPG7, c.233T>A, (p.Leu78Ter) in exon2, responsible for spastic paraplegia type 7 related disorders.